What is an MTHFR Mutation?

What is an MTHFR gene mutation

When you have an autoimmune disease (like I do), you get to learn a whole new language when it comes to your health. Terms like TSH, flare, leaky gut and triggers become part of your vocabulary. One term that I’ve gotten many questions about lately and that deserves the attention it is finally getting is: MTHFR mutation.

What is MTHFR?

MTHFR is an enzyme that adds a methyl group to folic acid to make it usable by the body. The MTHFR gene produces this enzyme that is necessary for properly using vitamin B9. This enzyme is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation . The process of methylation also involves the enzyme from the MTHFR gene, so those with a mutation may have trouble effectively eliminating toxins from the body.

The genetics home reference offers more detail:

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

Contrary to how it looks, “MTHFR” is not an abbreviation for a curse word, but a shortened form of methylenetetrahydrofolate reductase… Aren’t you glad it is abbreviated?

I touched on the importance of the MTHFR enzyme briefly in my post about folic acid vs. folate and why I am careful to avoid synthetic folic acid in supplements and foods.

Those of us with a MTHFR gene mutation have a highly reduced ability to convert folic acid or even folate into a usable form. Research estimates that as much as half of the population may have an MTHFR gene mutation, though there are many variations of the mutation, depending on how the gene was passed down from the parents. More on that below.

Problems From an MTHFR Gene Mutation

Dr. Izabella Wentz explains how the MTHFR mutation can affect those who have it:

Individuals with low activity of the MTHFR enzyme may present with elevated homocysteine levels, which have been associated with inflammation and heart disease, birth defects, difficult pregnancies, and potentially an impaired ability to detoxify.

Nutrient deficiencies in Folate, B6 and B12 have been associated with elevated homocysteine.

Individuals with the MTHFR gene actually have a difficult time processing folic acid that is present in most cheap supplements and added to processed foods. Some professionals claim that this type of folic acid may even cause a build-up in the body leading to toxicity. Studies have been done that showed folic acid supplements increased cancer risk… one more reason to ditch processed foods and your multivitamin!

Some naturopathic doctors like Dr. Doni Wilson suspect that lingering fatigue, fogginess, anxiety, sleep issues and inability to deal with alcohol and other toxins effectively can be a result of an underlying gene mutation like the MTHFR mutation. She explains how this affects many aspects of health and how stress is a compounding factor:

Activated folate (named 5MTHF) goes on to give its methyl group to other nutrients and substances – a process called “methylation.” It is required for the creation of every cell in your body, so if it is not activated properly, you can imagine what a significant issue it would be. 5MTHF, along with several other nutrients, is also used to create and process neurotransmitters (messengers in the nervous system like serotonin, epinephrine, norepinephrine, and dopamine); create immune cells and process hormones (such as estrogen); as well as to produce energy and detoxify chemicals.

Stress, in all its forms, inhibits this “methylation” – the transfer of methyl from 5MTHF to other substances. So when you are under stress, it is especially important to provide the nutrients necessary for these processes.

To clarify in more detail, the liver is a major processing system, involving countless enzyme pathways, including methylation, which turn one nutrient into another and toxins into non-toxins, preparing them all to be used and/or expelled by the body. When you drink alcohol, it is your livers job to process it using methylation, but if your nutrients are depleted or you are stressed, your liver will not be able to complete the process effectively, leading to symptoms associated with a hangover.

Identifying a potential MTHFR defect is especially important for women of childbearing age, as this defect can increase the risk of many problems in an unborn child, including folate related disorders like Spina Bifida.

Types of MTHFR Mutation

There are many different possibilities when it comes to MTHFR gene mutations and science is still working to understand them all. I’ve included links to more in-depth resources below, but there are several common mutations that can occur.

The reason for all the types of mutations is variations in the specific genes passed on from each parent. In other words, if both parents pass on a healthy gene, a person won’t have a mutation at all. If one parent passes on a healthy gene but the other passes on a mutated gene, several variations can occur. If both parents pass on a mutated form, there are many more scenarios that can occur.

The two most problematic mutations that can occur are  C677T and A1298C, which denote the placement of the mutation on the gene. The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent:

  • Homozygous: the same gene passed on from both parents-  can occur if both pass on the 677 mutation, or the 1298 mutation.
  • Heterozygous: one parent passed on the 677 mutation or the 1298 mutation but the other parent passed on a normal gene.
  • Compound Heterozygous: one parent passed on the 677 mutation and the other passed on the 1298 mutation.
  • Other more advanced and rare mutations.

What Happens When the MTHFR Gene is Defective?

Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme (estimates range from 20%-70% or more). This can make it more difficult to break down and eliminate not only synthetic folic acid but other substances like heavy metals.

Since folic acid can’t be converted into the usable form, it can build up in the body, which can raise levels of homocysteine. High homocysteine levels are associated with a higher risk in cardiovascular disease. This also affects the conversion to glutathione, which the body needs to remove waste and which is a potent antioxidant.

In short, we are just learning the extent to which this can affect health, but there is strong evidence that because of the affect on methylation, it can increase cancer risk, cardiovascular disease risk, risk of fetal development problems and more. It can also possibly contribute to or exacerbate other problems like autoimmune disease, mental issues and more.

Dr. Ben Lynch of MTHFR.net has a comprehensive list of conditions he has been abel to link to a MTHFR gene defect.

How to Get Tested for MTHFR Gene Defects

Though there are many symptoms that can be associated with an MTHFR defect, the symptoms can vary widely from person to person and only a test (blood or saliva) can verify a gene defect and the type.

Janie at Stop the Thyroid Madness compiled a great list of ways to get tested. Local doctors are able to run these tests as well, but not all doctors are well-versed in handing MTHFR issues…

Dr. Amy Yasko will test about 30 methylation SNP’s (single nucleotide polymorphisms)here. You may need a doctor’s prescription. It is considered to be a highly accurate test.

A similar one you can do on your own with saliva…and is highly recommended and popular…is from 23andme. It is stated to miss 5 SNP’s that Yasko’s will not miss, but is cheaper and still an excellent test. NOTE: 23andme states the following:

23andmeprovides ancestry-related genetic reports and uninterpreted raw genetic data. We no longer offer our health-related genetic reports. That does NOT mean you won’t get what you need. After the 23andme results come back, you’ll get “raw data”. You will upload that data to any of the following, which in turn will give you what you need:

  • Genetic Genie, which will look at your methylation genetics just by reading your 23andMe raw data.
  • Live Wello, which gives a great deal of information to you based on 23and me, plus links to learn more about each gene’s potential problem.
  • Nutrahacker will tell you what supplements you need to take, and which ones plus more you need to avoid, due to your mutations. It’s very interesting!
  • Sterling Hill’s app mthfrsupport.com/sterlings-app or you can contact her and pay for a call to help with interpretation of your genetics.

A VAST amount of genetic information can be obtained from Promethease.com

Here’s a good string about testing methyl pathways vs genome testing.

I personally have experience with Spectra Cell tests and Pathway Genomics.

MTHFR Tips

Though it isn’t possible to change a gene, there are things that can be done to minimize the potential for problems or to help avoid problems in children (before and during the mother’s pregnancy). As I said, the research is still developing on this, but some things that I find personally helpful are:

  • Focusing on gut health: Especially when the body has impaired ability to use certain nutrients, it is important to focus on gut health so that the body can absorb the nutrients from food as effectively as possible. I personally avoid antibacterial soaps, vegetable oils, processed grains and refined sugars and support my gut with fermented foods and homemade broth. This also helps avoid candida, which can make MTHFR related problems worse.
  • Avoiding environmental toxins as much as possible: Those with an MTHFR gene defect have an impaired ability to eliminate toxins. I avoid plastics, chemicals in beauty supplies and cleaning products, and scented candles, which can all release harmful chemicals. We use houseplants and other methods of cleaning our indoor air, and filter our drinking and shower water.
  • Not taking anything with Folic Acid: As I explained in this post, folic acid is the synthetic form of folate that cannot be used by those with a MTHFR defect and which can be very toxic. I avoid any supplements with folic acid and only take L-MTHF forms, which are the methylated forms that my body can use. I also take a methyl-B12 which is supposed to help the body use L-MTHF.
  • Lots of Leafy Greens: According to Dr. Ben Lynch, dark leafy greens contain the methylated forms of folate that those with a gene defect need. As if we needed more reasons that it is important to consume green veggies… I try to work in green veggies at every meal.
  • Avoid Processed Foods: Again, as if anyone needed another reason to avoid processed foods… Many processed foods have synthetic folic acid added.
  • Avoiding things that can block or deplete folate levels: Certain medications, including hormonal contraceptives can interfere with folate levels, and medicines like antacids can interfere with B-12 absorption.
  • Avoiding Heavy Metals: Heavy metals in diet or environment are harder to remove from the body for those with a gene defect, so I’m careful to avoid these.
  • Help a Body Out: Since those with a MTHFR defect have an impaired ability to eliminate toxins, I do things to help support my body in this process, such as: detox baths, sauna use, drinking enough water, dry brushing my skin and exercise (sweating). I also do strange things like using detox mud shampoo, detoxing my pits, and foot soaks.

MTHFR Video

This video with Dr. Alan Christianson and Dr. Ben Lynch provides lot of detail about MTHFR and how it affects health.

Additional Reading

If you are new to MTHFR and feel overwhelmed like I did, here are some great resources for more reading:

Sources:

https://www.ncbi.nlm.nih.gov/pubmed/11683544
http://primarypsychiatry.com/the-role-of-l-methylfolate-in-depressive-disorders-commentary/
http://www.bmj.com/content/328/7455/1535
http://primarypsychiatry.com/l-methylfolate-methylcobalamin-and-n-acetylcysteine-in-the-treatment-of-alzheimeras-diseasearelated-cognitive-decline/
https://www.ncbi.nlm.nih.gov/pubmed/22492374

An MTHFR gene mutation affects the body's ability to use folic acid or folate & increases risk of disease. Learn how to know if you have it and what to do.

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Reader Comments

  1. katie, your post is so timely. I’m trying not to cry because I was last night when I was lamenting to my husband that this disorder is so confusing and everything I read is over my head and seems outrageous (like don’t go to gas station or near a gas stove) and I don’t even know if any of my current symptoms are related to this or my other issues.

    I have known that I have both MTHFR gene mutations for a few years; I was told this along with my PCOS diagnosis and thyroid condition. My hormone and naturopathic doctors know very little about MTHFR and simply advised that I take a few supplements and to seek out a specialist (I’ve yet to find one).

    My pediatrician has no idea what I should do with my 21 month old because she definitely has at least one mutation (2 from me and 1 from my husband) and id like to know how it’s affecting her and what I can do to help before there becomes a problem.

    Anyway – I skimmed through your article and had to comment before I read it thoroughly because I already know you’re going to help – thanks for being thorough and easy to understand. I want to hug you!

    • Hello Janny,
      If you are looking for someone who can help you with your MTHFR questions, Ben Lynch’s site and MTHFRSupport.net (and a few others) have lists of providers that can help you with what you need to do. Ben Lynch’s SeekingHealth.org site includes information on how many of his courses different providers have taken. I am on that list for Tennessee, but each state has a listing, so hopefully you can find someone close enough to you. Another source of information is a facebook group called Methyl-nation. It is a group of MTHFR sufferers who share ideas and encouragement. I interact on that group on occasion and believe it can be educational. Be aware that there will be some varying worldviews in that group, so maintain some discernment depending on your own faith beliefs.
      May God guide your search for help.
      Blessings,
      Eric Potter MD
      Wholistic healthcare for the glory of God.

      • Hi Doctor Potter,
        I am in TN and my son has MTHFR defect. Where are you located? Looking for help.

    • I am homozygous with the c677t mutation. I had 2 horrible miscarriages and the dr I had at the time said that it was normal, 25%, 1 out of 4… blah, blah, blah. I knew that something else was wrong. I switched dr’s and the new one tested me for mthfr. This was in 2004. When the results came back, she referred me to a fertility clinic, and they started me on heparin injections in my abdomen for the duration of my pregnancies. I now have 2 amazing, healthy children. I know I need to get them tested, and I’m still trying to figure out my other health issues with the mthfr.

    • This article is so thorough and helpful. Thank you for taking the time to help and share!

    • Janny, there aren’t dates on the comments so I am not sure when this was made and if at this point I will be of help but I implore you to find someone who is a Plexus ambassador and ask them to tell you about Xfactor… it is a fully methylated vitamin containing aloe… an AMAZING supplement for those the the MTHFR gene mutation. With your other issues as well (of which I am a sufferer) there are health supplements with Plexus that I use that have helped me tremendously. Not claiming any of it treats or cures anything… but I feel better, healthier, and my doctors are very pleased and have encouraged me to keep doing what I am doing.

    • I too am having a hard time , no dr has enough info and I’m basically on my own.. I’ve tried methyl b vitamins and still can sleep 24 hours .. I tried the detox bath last night and now 24 hours later I’m super dizzy and having tummy troubles . I feel hopeless.. I’m 37 but in 100 yr old body

      • Nikki… I hate to hear that… no one should have to live that way! I am so grateful to have found something that helped me with my issues. Seriously, find you a local Plexus ambassador and try some products.,,, there is a 60 day money back guarantee. I say find someone local because I feel with your issues it would be beneficial to have someone close to you that can meet up with you and really be there for you… and also so you know I am not saying this just because I am an ambassador and I would benefit from selling to you… not trying to sell you AT ALL. Plexus is natural, primarily plant based health supplements that help balance your body so it works the way it is supposed to. The primary target is inflammation, gut health, and balancing blood sugar… with those three things in check our bodies begin to work as designed. Lots of great products to try.

      • Nikki,

        I also tried a couple times and did not have a good reaction. I am doing Dr. Amy’s program and you really have to have certain things in place first before even trying methyl b12 and folate. I would really suggest doing a hair test with her. You have to take gama, magnesium and curcumin and on the hair test it will test lithium, potassium and zinc to see if your levels are good. You need to do this first before starting methyl b12. Dr. Amy will write what you need to take on your test. There is also a message board where you can ask questions and you will get guidance. Also you need to take each supplement very slowly and low doses starting out or it will have a detox effect on you. I was really low on potassium and that has helped.

      • Nikki,

        If you took an epsom salt bath you might be sensitive to sulfur and you shouldn’t do them anymore. If you have CBS mutation you are sensitive to sulfur and you need to be careful taking epsom salt baths and taking MSM and NAC. Even just taking Gaba has helped me, which is the first step on Dr. Amy’s protocol.

  2. I cannot thank you enough for posting about this! I learned that I have the MTHFR (A1298C – heterozygous) after we lost our first baby at 24 weeks. To say that my husband and I were devastated and wanted answers is a gross understatement. I visited a hematologist shortly after (5 years ago) at Rush University in Chicago (not exactly a podunk hospital). I was told by my OB and by the hematologist that this mutation was not anything to worry about and that it didn’t have anything to do with losing our baby (if you’re interested, I had a massive sub-chorionic bleed; the bleeding weakened the amniotic sac, which broke and I went into labor. . . there are more details, of course).

    I’ve since had two other beautiful children (but the pregnancy with my now 16 month old daughter was full of “unexplained” bleeding and we risked losing her throughout – thankfully, she was born full term). Needless to say, losing our first son launched me on this journey of figuring out what is going on in my body, and in the process, learning that my doctors (most doctors) don’t really know what they’re doing. I recently went to a Naturopath who asked me if I had the mutation. I couldn’t remember because I was told it was irrelevant. When I got home, I reviewed my medical records and sure enough, I have it. I am convinced that the mutation is connected to my problems in pregnancy and my other health issues. To that end, I’ve been reading Dr. Lynch’s site for some time now to figure out how to help my body cope.

    I’m most thankful for your post, because I’ve had a difficult time explaining the mutation and all its consequences to my family, and now, all I have to do is pass along what you’ve written! THANK YOU SO MUCH!

    Of course, thank you for all that you share. You have helped me and my family so much! Finding your site has been a huge blessing to me and my family!

    -Roxana
    P.S. Your new picture is cute :). Your previous one was, too :).
    P.P.S. Sorry for the super long comment.

    • Do you mind talking to me more about the unexplained bleeding you had with your youngest? I had 2 confirmed and 2 unconfirmed early term miscarriages, none of which were noted in my medical records, before having my daughter, and I had bright red bleeding from 7-14 weeks that they said was “probably” from a friable cervix (weak cellular tissue at the outer tip of the cervix, which sloughs off and bleeds, but is not dangerous to baby unless it progresses to cervical funneling and then incompetent cervix and miscarriage). She was fine throughout my pregnancy, and was born full term on her due date. Otherwise, my pregnancy went well, but I only ate what I craved, which was mostly all healthy, and I got pregnant after doing the HCG diet, which eliminates all sugar and grains for a month. I had a miscarriage when she was 14 months old, that was confirmed but I’m still unsure if it was noted in my records or not (gah!!), and since then I’ve had 6 unconfirmed 5-6 week miscarriages, the latest of which was in October. I’m very low income, so totally at the mercy of insurance coverage, unfortunately. I just learned about MTHFR, and am asking my doctor today to test all three of us (me, husband, daughter), but not sure yet if she can. I’m hopefully suddenly, but totally freaked out and overwhelmed, too. I know that I took folic acid during my pregnancy only to have them keep telling me to take it because of low levels, and my iron was abysmal despite supplimentation. I also have hypothyroidism and PCOS. Anyway…I’m wondering about the bleeding you mentioned, since I had weird bleeding, too. Just trying to understand all of this.

      • Hi Alena,

        I am sorry to hear about all your miscarriages :(.

        As for my “unexplained” bleeding with my daughter, it turned-out that I had a huge uterine blood clot, which I passed right after my daughter was born (like on the table). They weren’t able to tell me anything about it, and, in fact, I don’t know if they did any lab work on it – I don’t think they did. The answer I always received was “we don’t know why. . .” Given the issues with my first son, I don’t think that both of the pregnancy problems were “flukes.” I think it probably has something to do with my MTHFR mutation, but a whole host of other things. It is really difficult to nail down just one thing/reason since our body chemistry is so complex and has so many contingencies, etc.

        Either way, it sounds like you and I probably have different issues at play. I did not have miscarriages like you have, and I also don’t have PCOS or hypothyroidism. In fact, if I do have a thryoid problem, I suspect it’s hyperthyroidism.

        Anyway, take one day at a time. Whether or not you get the genetic tests, you should (and I’m sorry if you already know this) get yourself on a really clean diet, exercise, etc. Since my daughter was born (she’s over 2 now) I have really struggled with a too short menstrual cycle and I think a few other hormonal imbalances. . . I have seen improvement by keeping my diet really clean (I’m not always super-disciplined on this front), supplementing with different high-quality, bio-available vitamins and minerals, and also helping my body “detox” (salt baths, apple cider vinegar, dry-brushing, etc.). Also, acupuncture has really helped me, but unfortunately, insurance doesn’t typically cover it, and it can really add-up.

        I hope this helps. All the best to you, Alena!
        Roxana

        • Hi Roxana, I was just wondering which Naturopath you used in Chicago? I’m trying to research where to go and it’s great that yours actually questioned MTHFR! I would greatly appreciate it, thanks!

          • I saw a naturopath as a consultant only once. In fact, I don’t even remember her name. She was somewhere on the northshore. She had asked me about MTHFR and that’s what got me going on it. I have to say that she was otherwise not very helpful and even suggested that I eat more soy protein, like tofu, which is absurd. Long story, but soy is only “good” if it’s fermented. If I could remember her name, I wouldn’t recommend her. There are plenty of naturopaths around the city. A few google searches should help. I don’t currently see a naturopath, otherwise, I’d likely recommend that person. I’m sorry I can’t be more helpful!

          • Ok thanks. We are seeing a great reproductive immunologist right now, which is how I just discovered I have the mutation, hoping to delve a little deeper into it, as I was prescribed Metanx and that’s about it. So much to read about and thank goodness for Wellness Mama, this article is much less overwhelming than MTHFR.net! Will see if I can find a good functional medicine doc or naturopath around here. Thanks again for your reply!

      • Hi. I am just learning that I have this mutation along with factor 5 defiency. Reading some of the women’s commits on bleeding during and after pregnancy made me want to share my story as well. I was raped at 13 and gave birth to my oldest child at age 14, the product of the rape. Two weeks after I was home alone and began to bleed uncontrollably. After a few hours and almost fainting from the blood loss my neighbor contact my mom who was at work and I was took to my ob. Upon arrival and undressing to be examined I lost a massive blood clot the size of a soft ball. I was hospitalized and given meds to stop all my bleeding. I was told it was due to not drinking enough water. I have had blood clots during other deliveries but nothing to that extent. My mom and uncle both recently had deep vein thrombosis and I am pregnant. When I told the doctor about my past bleeding and clots along with family history they tested me for every blood disorder. I am a little worried though because I have been reading I may not be able to break down folic acid,which is exactly what they are putting me on for this exact mutation, along with shots of a blood thinner lovenox 2 Xs a day for the favor 5 deficiency. ?

      • Wow…Alena, I have a story similar to yours…I have had a lot of miscarriages…they thought I had uterine scarring, HSG scan came back normal, just 4 unexplained miscarriages-one at 20 weeks, and the others at 8 weeks and 12 weeks….just happened to click into this link…I really don’t understand the MTHFR mutation thing…just looking for something to “take”…we have terrible insurance now and can’t afford a lot of tests…any suggestions anyone? My blood work has come back with malformed red blood cells most likely due to folate deficiency, I have gut issues that just came on 2 years ago right after my 20 week miscarriage….I attributed it to stress from the situation, but it hasn’t gotten better. I saw a gastroenterologist who ‘diagnosed’ me with IBS-D…I have switched to a raw foods diet with some grass fed beef. Very little sugar-and no processed foods…I also have slightly elevated liver enzymes. UGH. I just ordered a 5-L-MTHFR…a folate supplement…not sure what else to do. Any one have any suggestions? I would love to have a baby, I can get pregnant, I just can’t seem to carry a pregnancy farther then 12-20 weeks :’-( and I am getting old. Just a few months shy of 40 which my OB reminds me of every visit. 🙁

  3. Very timely post for me too! I have had two consecutive (recent) miscarriages. After asking for every test possible to try to figure out why…I find out I have MTHFR. I still don’t fully understand it. And have even seen a high-risk OB about it. My homeosistene levels tested normal, so I was told the miscarriages were not a result of the mutation. Just random. I have had two normal pregnancies so doctors are not worried. But, in total have had three miscarriages.

    No one has ever said anything about processing toxins or folic acid. Should I not be taking a pre-natal vitamin? I would love more information on this!!

    And what is your take on other issues…I also have eczema on my hands and arms/legs.

    Thanks!! I love your blog and all your awesome research!!

    • I’m so sorry to hear about your miscarriages.

      To answer your question, based on everything I’ve read, you should NOT take a prenatal vitamin that has folic acid in it. Your body won’t be able to absorb the folic acid (at least not properly and it could lead to toxicity, which would obviously do far more harm than good. You should eat foods naturally containing forms of folic acid (i.e. methylated), which your body will be able to absorb, and should definitely look into supplementing with methylated forms of B-vitamins (I am currently in the process of figuring out which to take, and how much). That said, I am not a doctor, I’ve just been reading about these mutations since I am heterozygous 1298C.

      My doctor OB and hematologist (from different hospitals) both told me that my pregnancy problems (see my previous comment for more details) had nothing to do with the mutation, but I am convinced they were/are wrong. I could really go on and on about why I not longer trust them.

      Additionally, it is highly unlikely that your high-risk OB will know much (if anything about this). I visited the chief of the high-risk OB department at Northwestern University’s Prentice Women’s Hospital in Chicago, and he didn’t test me for anything and was like “Meh. You have a 50/50 chance of having this baby. Sorry we can’t be more helpful.” (that’s almost a verbatim quote). I understand that the man sees people lose their babies all the time, so his lack of sensitivity wasn’t that surprising or offensive.

      To be clear, I’m not expecting these doctors to perform miracles. They’re not God. No one is. I do, however, expect doctors to use the brains that God has given them. Sadly, many of them don’t.

      You really should check-out Dr. Ben Lynch’s website and start doing some internet searches, and/or call doctors (your best chance is with a Naturopath) and ask them if they are familiar with MTHFR. That said, I visited a Naturopath who in the course of my visit did ask me about MTHFR, but later in the visit told me that I should be eating more vegetable proteins like soy protein, and specifically said tofu. I was like “Um, what?” When I questioned her and explained that I’d understood that soy behaved as a phyto-estrogen/hormone disruptor and should be avoided, she told me “I have never heard that.” I left her office wondering where the cave is from which she wandered. Needless to say, you have to work to find the right doctor. Be encouraged that you are one the right track!

      All the best to you!

  4. Interesting info. I do not have the gene mutation but I am a carrier. I received genetic counseling where I was informed to take folic acid and that I had a higher chance of miscarriage in the first trimester. Luckily I have 2 healthy children (almost 3 years old, 7 months old). I wonder if I should have them tested. I assume it’s not covered by insurance.

    • This is a genetic mutation, either you have a mutated gene, or don’t. Even one mutated gene can result in reduced ability to process folic acid. Taking unmethylated, or typical forms of folic acid is a waste of time. It will bond the receptors, preventing you from processing the methylated forms. Please do more reading on the subject. I recommend Dr Lynch’s site, as he does a relatively good job of explain things in layman’s terms.

    • So glad to see you tackle this topic! I’m sorry it seems you’re in the same boat as so many of us on this topic! 🙁 My personal journey is long and varied, and like most, I’ve come to the conclusion that much of the medical field simply discounts what they don’t understand. And they certainly do not understand MTHFR. My family carries 1298C, you know, the one that isn’t anything to worry about… LMBO. (Short history, migraines began by age 7, first stroke at 30, 2 days following my first miscarriage!) My biggest worry is do I test my 5 year old, simply supplement her with methylated foliate and cobalamin, and should I do any milder detox routines for her? Also, where is a reputable source for methylated children’s vitamins?

      • Erin, I am sorry to hear of your journey and hope that you’re able to recover your health.

        I agree with everything you say, especially that much of the medical field simply dismisses what they don’t understand. It is so frustrating!

        I have the 1298C mutation as well and was told by previous doctors that it’s irrelevant. I do believe I’m finding relief from my symptoms through Traditional Chinese Medicine (acupuncture and some herbs), but I need to be doing more with supplementation, etc.

        That said, my biggest concern (like you) is for my kids. I have a 3 1/2 year old son and a 16 month old daughter. I’m considering doing 23andMe testing just to make sure that they only have the one mutation from me. My husband and his family have no idea about these things, but there are a lot of auto-immune disorders on his side of the family. Anyway, I don’t know how aggressive to be with supplementing and I don’t want to “experiment” on them especially since they’re small and aren’t able to tell me how they’re feeling.

        If you find any info about supplements for children with 1298C, would you pass it along here? I would really appreciate it. I will do likewise.

        In the meantime, I’m focusing on their diets and making sure that they’re eating as well as humanly possible (our extended family thinks I’m nuts :). I’m also supplementing with Fermented Cod Liver Oil and Vitamin D. Not sure how either speaks directly to this issue, but I can’t imagine these things could be harming them.

        All the best to you!

        • Roxana I know Im responding to an old post of yours but I had to let you know. Who cares what your extended family thinks!! You are a great mom and absolutely doing the right thing for your children 1000% I take my hat is off to you! By reading, researching and networking you’re keeping yourself informed. If every mother in America was as vigilant as you are. There would be no such thing as juvenile Type 2 diabetes a disease that up till recently didnt manifest itself until one hit age 40 now showing up in 7 year olds all because those mothers had no problem feeding their kids lunchables pop tarts high fructose corn syrup and other highly processed poison. Keep up the good work god bless you and your children

  5. So timely! I was diagnosed with heterozygous C677T in December (after my second miscarriage and three years of trying to conceive) and I’m trying to avoid the synthetic Folgard that my fertility clinic recommends. I notice that you only take methylfolate and methyl B12–is B6 unnecessary? Also, what methylfolate do you take? I’m assuming the same brand as the B12?

    • I am compound heterozygous MTHFR and had 2 horrible missed miscarriages in 2014 – we are just now trying to conceive again – but im so nervous! Im taking a ‘seeking health’ prenatal and ‘thorne’ methylcobalamin and was advised to start taking low dose aspirin as soon as we fall pregnant… would love to hear more from people with this condition about their pregnancy/birth experience?

      Thank you xxx

      • Your story is identical to mine! 2 miscarriages in 2014 and I was recently diagnosed compound heterozygous. I was advised to start baby aspirin immediately (for the rest of my life), and am supposed to start lovenox injections as soon as I find out I’m pregnant until week 24. I really feel like that’s not treating the real issue, and I would really like to know if anyone has had success without the standard bloodthinners! I realize the issue results in blood clotting, but I really hate that the dr’s don’t seem to know much about or try to explain the difference between folic acid and methylfolate. My family kind of thinks I’m a little overboard with not even wanting to take baby aspirin, but it can cause gut issues, which I’m just recently healing from. Obviously they do, because we know that many people have mthfr that do not know it and have miscarriages and go on to have normal pregnancies.

        • What supplements are you on Holly? was your homocysteine level high ? Mine was only 8 – so in the normal range

          My doctor gave me the option of aspirin or lovenox and I chose aspirin but I’m not sure if I’ve done the right thing!!

          • My homocysteine levels were not checked, and I have read that they may not be an accurate reflection of true homocysteine levels because the levels they check are in the blood but levels can be high extracellular? I may not have worded that correctly. I’m glad to hear that someone else has a dr. that ok’d aspirin only, because I will try that before I do lovenox. I am currently taking solgar methylfolate 800 – 2-3 tablets per day, garden of life prenatal vitamins, pure encapsulations nutrient 950 without iron. (I mix and match the multi’s so I don’t get too much of anything, although I don’t really think that’s a concern) and I take Wobenzym systemic enzymes. There’s some good articles on natural fertility-info.com about systemic enzymes and preventing miscarriage. They break up fibrin in blood which causes blood clots. I am also supplementing with natural progesterone cream, this is supposed to help prevent clots as well.

        • Wow you two ladies sound similar to me!! 2 healthy girls, one in 2009 & 2011, now 4 miscarriages in the last 14 months, one which was at 21 weeks. I was diagnosed with leaky gut and have been working for months to fix it. I have been gluten free for months, used Wobenzym, although not sure I used enough (I still miscarried), and I have a MTHFR gene mutation on 1298. I’m on baby aspirin, prednisone (yikes) and had an intralipid therapy last week in preparation for ovulation – any other tips? I had my homocysteine levels checked in December, was also an 8. LOVE Wellness Mama for paving the road for all these healthy changes I’m trying to make in my life!!!!! My next healthy endeavor – homemade deoderant 🙂

  6. I have never commented on a blog before but I wanted to thank you for posting the article and offering solutions to manage it. I have the gene defficiency and when doctors told me to just supplement on folic acid, I knew it was not the solution. I want to fall pregnant soon and your article inspired me to look after my body as much as possible, and naturally!

  7. Dear Katie,

    Thank you so much for you posts, they are great. I really enjoy how many things I can lean from you. There is a huge favor I would like to ask you; is it possible to write a post about PAI I nutation, this is what I found I have after a couple of tests. I look forward to reading more about this.

    Kindest Regards

    Andreea

    • I have PAI 4G/5G and I found out after losing my first pregnancy and requesting they test for thrombophilia. I have since then had 2 more pregnancy where I had to be on lovenox injections but now have a 6 year old daughter and 1 year old son. now that i know better and have a healthier lifestyle i worry about the affects blood thinners could have on them in the long run :/

  8. Thank you SO SO SO SO MUCH for this wonderful article! My health, or lack of it landed me in the hospital the other day. The doctor didn’t do much tests and was baffled but something is clearly wrong. I thought I was going to die. I need to see an infectious disease specialist, not that I have a disease but I guess he can run the tests to see whats wrong with me. Which doctors run these sorts of tests? I am sick of going to see different doctors.. I have been struggling with my health and struggle with candida and my body doesn’t eliminate toxins I don’t eat sugar or anything, well I try not to I have immune issues I think that this maybe what I have I will tell the doctor to test me for this. I think God may have put you in my life for a reason. =) I have been so sick and bed ridden my bones ache what type of B-12 can I take? Just any form of B-12? What supplements would be the best for me names and brands?

    • You really need to be tested for SIBO (leaky gut), MTHFR, homocysteine levels, etc… good luck 🙂

      • I just found out today that I have the MTHFR mutation, I have been sick with chronic digestive infections for three years following C.Diff infection due to taking Cipro. I am following GAPS diet, and take desiccated liver from Radient Life (6 capsules) every day. I am wondering if you, or anyone else, has any information on relying on desiccated liver for B 12 as opposed to taking a supplement? Thank you for this most informative post, you have blessed me with so much information and understanding!

  9. Katie, thank you for this post today! I discovered I had the heterozygous c677t mutation last year, and it has been very difficult to process. Thankfully, it has been another piece to my health puzzle, and I’m at least glad to know why certain issues have popped up. I, unfortunately, am struggling with getting the right dosage of B12, as I tend to overmethylate easily. This has caused a lot of frustration! I hope to see more articles about MTHFR from you soon!

  10. What type of Methyl-B12 do you take?

  11. Excellent article! Can’t wait to get tested!??

  12. Katie, what type of methyl-B12 do you use to help your body utilize the L-MTHF? I have been diagnosed with homozygous A1298C MTHFR and have not been able to find relief from the problems that come with it. Absolutely wonderful post, thanks!

    • Hi Cara,

      I’m homozygous 1298 as well. My naturopath put me on Douglas Labs Methyl Folate L-5-MTHF, 60 tabs per bottle. I also take methylated B12, from either Douglas or Thorne. While they are excellent supplements, I felt the biggest difference when I started taking 2000 IUs of vitamin D after my naturopath (gosh, she’s smart!) found me to be quite deficient.

      Aside from a miscarriage at nine weeks, I have had great health but was very grateful to find out about the mutation. I took the methyl folate while pregnant with my son last year, and will have my daughter tested for MTHFR soon.

      Genetically speaking, my mom had herself tested and is heterozygous for 1298. Unfortunately my father is out of the picture (divorced long ago) and so I’m not exactly able to hit him up for his side of the story!
      Hoping my brother gets checked too.

      I wish you all the best and hope your health improves! 🙂

      • Hi,
        I am homozygous 1298 as well. I am currently breastfeeding and take thorne prenatal vitamins. Do you take a certain form of vitamin D? Also, do you have a preferred brand for vitamin D?

        I was tested in the past and very D deficient. But I haven’t been taking any recently besides what’s included in the prenatal.

        • Rachel, when I was tested deficient in Vit D. I was at 22. So my doctor (who is an MD but she practices in Alternative and Holistic Medicine specializing in Women’s Health) put me on 10,000 IU of Vit D, until my numbers come up. After about six months or so, I retested and I brought it up to 60 (which is in the optimal range). So now I dropped my Vit. D supplement to 5,000 IU.

          From what my doctor told me, 2000 IU is the level that children should be taking. Adults should be taking 2,000 to 5,000 if they are within range. And those that are deficient should be taking 10,000 a day!

          I brought mine up by taking the NOW brand.

          There is a great book on the subject of Vitamin D that I feel every person should read. It is called The Vitamin D Solution by Dr. Michael Holick. He also writes about the levels that I mentioned up above.

  13. Katie-You are awesome!

  14. Thank you for the informtion and links in this article. I would like to offer that MTHFR is one part of the methyl cycle. It is very important to find a practitioner who understands as much as possible about the entire cycle. My initial instructions from a practitioner regarding MTHFR overloaded my system with methylated B vitamins and it send me into toxic ammonia overload, and it took several months for me to recover my previous state of health.

  15. Thank you for a great explanation of this complex problem. As I have cared for patients with MTHFr and its associated genes, this education is always key to empowering patients to care for their health. I will likely use your explanation if that is okay.
    Blessings,
    Eric Potter MD

  16. i work for a functional medicine doctor and work with patience will all sorts of issues that M.D.’s can’t/won’t/don’t know how to treat. MTHFR is an issue that can be worked with,simply most of the time. Find a good Naturopath or functional medicine doctor. M.D.’s don’t always look for the “whys” in the problems we have. Everything has a cause so therefore a solution or management. Don’t give up!

    • I agree with Erin. It was my Functional Medicine practitioner who found that my homocysteine was through the roof then tested me for the MTHFR mutation which I tested positive for. She recommended a supplement with folinic acid (not folic) or some other blends that are more bioavailable (my friend uses Life Extension brand). Just make sure you buy supplements from a reputable source that has been 3rd party tested. I’ve definitely found that the cleaner I eat (no soy, dairy, gluten, etc) the better I feel. Thanks, Katy.

  17. Interesting….I never heard of this until my daughter was scheduled for surgery and I told him my grandma has Factor V Leiden so her doctor tested her to make sure she didn’t have it. She doesn’t, but she is heterozygous for MTHFR mutation. The doctor just told her no birth control pills ever in her life. I’m wondering if all this applies to her because she is just heterozygous for MTHFR mutation. Opinions?

    • Good morning Lisa,
      You are asking if your daughter has to address all of these issues based on being heterozygous for MTHFR. Short answer…it depends. Awareness of this genetic predisposition is the first step. Second step, learning to avoid those things that might turn the predisposition into actual symptoms. Third step, learning to recognize when certain symptoms might be a sign that the predisposition is allowing illness to manifest. All together, learning to care for oneself.
      Blessings,
      Eric Potter MD

      • Thank you! She gets a lot of headaches so I’m going to research more.

  18. It seems that all the Paleo/holistic people I follow have started hitting on MTHFR a lot! I don’t know if it’s coincidence or if I’m just noticing it more because I’m personally doing more research and it’s popping out at me. Either way, thanks for this post! I recently found out that I’m homozygous for MTHFR….I also have a lot of SNP’s (both homo and hetero) for other things in the methylation and detoxification process, like COMT, CBS, MTR, and MTRR….as well as things like MAOA and DAOA. It’s extremely interesting but very confusing on where to start. I began supplementing with extra methylated folate and B12 last week but found that I became very anxious, withdrawn, and depressed. I’ve read that people who have COMT may have a hard time with methyl donors and need to get those issues straightened out first before tackling MTHFR. I’m also worried about my homocysteine levels, as I’m pretty sure that I don’t produce enough glutathione to detox properly because my body is high in aluminum and other heavy metals. My husband and I aren’t trying for children currently, but probably within the next couple years (we are avoiding naturally)….and I’m so afraid of miscarrying or having something go wrong because of my genetic mutations. My husband is heterozygous for MTHFR, so there is ZERO chance of our kids have 2 normal genes, and a 50% chance they would be homozygous. I also have lymphocytic colitis, psoriasis, and have been dealing with more aching joints in my hands. So I definitely have some autoimmune stuff going on as well.

  19. Hi everyone,
    I am a certified genetic counselor. Genetic counselors are masters degree trained health professionals with clinical training in medical genetics, counseling, and education. We must pass a national examination to practice, and adhere to a code of ethics. For those of you who have been frustrated by the lack of specialists who know something about MTHFR, I encourage you to seek out a genetic counselor by going to the http://www.nsgc.org and using the “Find a Counselor” search tool. If there is not a genetic counselor in your area, there are some who provide counseling over the telephone.

    I’d also like to caution everyone to not to overestimate the importance of MTHFR In your health issues. The scientific research on this gene is still very early and mixed. Carriers of a single gene change are affected very differently than people who have two gene variants. Carriers of a single variant are very common in the general population. Most carriers don’t even know they have the variant because it never causes problems. Even among people with two variants, the effect of the gene is very dependent on diet and even other genes, some of which we don’t understand yet. I’m not saying to ignore MTHFR, I’m just cautioning against broad generalizations that may not apply to you as an individual. MTHFR has become popular among naturopaths as a catch-all explanation for patient’s myriad health problems. The truth is more complicated.

    Finally, I also want to caution people against some of the testing companies that Katie mentioned. Many of them overemphasize the importance of certain genes as a clever marketing tool. In fact the FDA has recently asked some of those companies (including 23andme and some nutrigenomics companies) to cease offering certain tests because of false claims of efficacy. The most trustworthy genetic testing is always through a certified genetics professional, either a physician who specializes in genetics, or a genetic counselor.

    • Thank you, Suzanna. I needed to read this.

    • Hello,
      As a physician guiding patients through testing results such as 23 and Me, I both agree with Suzanna and disagree. Those of us who address such genetics issues always say “don’t treat SNPs, treat patients”. So Suzanna is correct in advising against over relying on such results. On the other hand, standard genetics does not explain the emerging field of epigenetics. Epigenetics is not black and white, but a thousand shades of a gray mosaic. Though 23 and Me has been restricted from making the health claims it was doing (a move I agree with due to its overgeneralizations), much information can be gleaned from this testing that can benefit patients health, present and future (keep in mind, I use this as a tool like any other test…I order it on some patients, but not on others). Science is scratching the surface of the field of epigenetics and it is promising significant rewards. The hope for benefit is so great that 23 and Me has partnered with industry to search for links to diseases (and industry is paying a pretty penny for the data). MTHFR has been linked to cancers, birth defects, asthma, depression, anxiety, and many other diseases. How many more will be discovered? As Suzanna indicated, finding someone knowledgeable in this field is important, but if they tell you not to worry about your results, they look for someone else.
      Blessings,
      Eric Potter MD

      • fascination Amazing information! Thank you!??

        • You are welcome.

    • Hi Suzanna!
      I have the c677t mutation. My holistic Dr. (Mary shrick in OK) has me on her supplements for it but my question is, if it’s difficult for those with this mutation to detox then what’s a good way to detox effectively?

  20. Hi Katie,
    Thanks for this post! Do you think mthfr is an underlying cause of morning sickness? I have had 4 pregnancies all with morning sickness (which has improved as my diet improved over the years). I notice that if I focus on detoxification (lemon water in morning, raw milk throughout the day, Epsom baths and turmeric) my MS is better. I am convinced that for me MS is my due to my inability to detoxify the massive amount of hormone. I also noticed that just prior to starting the GAPS diet (when my gut health was at its worst) I would get a “hangover” every time I ate gluten. I always chalked it up to liver weakness. Now I wonder if it is due to mthfr mutation? …

    • Hello Megan,
      Is MTHFR your problem? Maybe, maybe not. There are several genes involved in the methylation cycle and its branches. Maybe a better question is whether the methylation cycle is affecting your health. That I would say is very possible. A good history, some basic hormonal or nutritional testing, and maybe genetic testing would help to answer that question. On the other hand, your improved nutrition is definitely a part of less morning sickness.
      Blessings,
      Eric Potter MD
      Wholistic healthcare for the glory of God.

      • Eric, love your approach….to God be the Glory! Where do you practice?

        • Franklin, TN. South of Nashville.

  21. Thank you for this awesome resource on MTHFR mutations. I’ve been so confused by it all and this helps me so much!!!

  22. I was just diagnosed with this gene mutation on Tuesday! I couldn’t even wrap my brain around it until I saw this post. Thank you for this information and all the links. I will definitely be digging deeper. My Integrative Medicine doctor had me used 23andme.com and livewello.com to generate my results. Both were easy to use.

    • This is an awesome article! What we are trying to do at Livewello is democratize the average person’s access to their Genetic information so that they too can leverage their chances of a higher quality of life.

      Right now, when a user uploads their raw data into the Livewello Gene App, it will give you your Gene report for 600,000 Single Nucleotide Polymorphisms and attaches 12 resources for learning to each Gene.

      The App even offers free updates that reflect your results when 23andMe adds more SNPs to your raw data OR when new research is released about a Gene that affects you. The reason for these features, is that we believe that people should have information for all the Genes in their Raw Data not just some of them. That way, a user and their Heallthcare Practitioner can have the benefit of all this information when creating a treatment or lifestyle plan.

      For example MTHFR is just one of the significant Genes in the methylation cycle. 23andMe will also give results for others like these: https://livewello.com/snps/library?action=preview&index=175591&for=demo

      We also encourage users to arm themselves with vital information that they should share with their Doctors. As such, Livewello is also the only Genetics Application to come with these free tools:

      ~A Gene library with unlimited access to hundreds of free Gene Reports: https://livewello.com/snps/library ,

      ~A Health Conditions tool that allows users generate Gene Reports based on their Diagnosis or health issues: https://livewello.com/gwas

      ~A Sandbox Tool for creating Customized Gene Reports: https://livewello.com/snps/sandbox and

      ~ A Data Tool for tracking your functional lab results: https://livewello.com/data-apps

      We hope that all these features in the App will partner with a person throughout their journey to wellness, not just the moment their results arrive.

      We hope to remain agile in this space so that we can continue to serve users with their needs in this dynamic field. Please reach out to us at https://livewello.com/support with any requests you and your readers may have:
      https://www.facebook.com/notes/livewello/about-livewellos-gene-app/863565933654629

  23. Thank you for addressing this so thoroughly! So important to get the information out there. I have found going completely gluten free to be helpful in addressing my autoimmune thyroid, and of course supplementing with methyl B’s as recommended by Izabella Wentz.

  24. I am so happy I came across this post. I have chemical sensitivities and I have a feeling it has to do with this folate deficiency you talk about. I have been on birth control pills for the last 10 years. I remember my doctor telling me to take folate a long time ago due to the pills but it slipped my mind and I never got around to it. I know my body can’t process toxins like other people because I am so sensitive to chemicals, maybe the pill is the reason why. I will have to look into this. Thank you so much!!!

  25. Thank you for breaking down this information in terms that are easier to understand. My 6 year old has the gene mutation (heterozygous A1289C) and I don’t fully understand what it means for her in terms of symptoms. I will be doing my research. It is frightening but I am glad we have this information while she is still young.

    • Hello,
      If your daughter is eating a nutritious diet with plenty of green leafy veggies and avoiding processed foods, especially those with fortified synthetic folate, likely she won’t have much to worry about with 1298. Those who eat a healthy diet are far less likely to suffer consequences.

      Blessings,
      Eric Potter MD

      • Thanks Dr. Potter,
        She is eating a fairly healthy diet. We have eliminated all processed foods as well as sugar… trying to find a link between food and a few vocal tics she has been having. She is on a B vitamin trio and now that I understand a bit more I am anxious to ask her pediatrician more about the longevity of this.
        Do you know if there is a link between this mutation and SIBO? Her pediatrician thinks she may have SIBO although she has none of the obvious signs.
        Thanks for your response. Puts my mind at ease.
        Tara

        • Hello Tara,
          Couple of quick answers as best I can give given the fact that I know a limited amount of your daughter’s history. First, vocal tics are not a rare event in children and most outgrow over time if they are not severe. Second, SIBO interacts with MTHFR by altering the gut flora’s contribution to your B vitamin intake. It does not always do this, but can sometimes lessen availability of B vitamins and interfere with absorption of others. If SIBO is confirmed. might want to evaluate vitamin levels and / or just treat the SIBO before checking.
          Hope that helps.
          Blessings,

          • Dr. Potter,
            Thanks! It does help. I have so many questions. We are treating the SIBO with- I guess a sort of herbal antibiotic- the tics have almost stopped. She was experiencing 5 at once (including motor) and they are down to a slight humming once in a while. Her pediatrician recommended the GAPS diet for 2 years and I just couldn’t get on board. We did a total elimination diet for 2 months and then saw a naturopath who did muscle testing and came up with a handful of allergies/food sensitivities. We are eliminating those before re-thinking the GAPS diet. We did an extensive stool sample which lead to the SIBO diagnosis although there were no tummy aches, no constipation, no diarrhea. I guess I was having a hard time thinking it was accurate… especially after I read that SIBO is usually diagnosed with a breath test. I don’t know what to think. Anyhow, sorry for taking so much of your time and thanks again for your input.
            Tara

      • Dr. Potter, Katie, (or anyone else),

        I just found out that I’m a carrier of C677 and my husband has both mutations. We have a 6 month old baby who is taking Similac Organic formula because I was not able to produce breast milk. I have a concern because the formula contains folic acid and I don’t want to set her up for any future issues. At what age can we test her for the mutation or should we assume that she most likely has it? Is there a formula out there without folic acid? We did start her on organic solids this month like fruits and veggies so I’ll make sure to be diligent about leafy greens.

        • Hello,
          Does your husband have one or two copies of MTHFR? And did you mean that he has both 1298 and 677? From you, your baby has a 50% chance of having one copy of 677. If your husband has 2 of the 677, then your baby is guaranteed to have one or two copies. If your husband has only 1 of the 677, then 25% chance baby has no copies, 50% that has 1 copy, and 25% that has two.
          Regardless, I have asked a group of patients with MTHFR about options for baby formulas. I don’t know of any myself. You may want to look at supplementing with 100 to 200mcg of methylfolate (tablet crushed and dissolved in formula) to counteract folic acid until you find another option. If I can get an answer from the group, I will let you know.
          Blessings,
          Eric Potter MD

          • He has both 677 and 1298! Thanks for the advice. I’m a little apprehensive about making my own formula since she’s been doing well with the Similac Organic, but if you hear of another substitute, I’d love to hear! And thank you so much for the recommendation for the crushed methyl – we’ll definitely do that!

        • Hello,
          Here is a link to Weston Price website about making homemade baby formula. I cannot vouch for the safety or efficacy of these formulas. Use them at your own discretion and consider discussing with your own physician. This is just for informational purposes and in no way constitutes medical advice (legal language to make it clear that you are assuming responsibility for using these recipes).

          http://www.westonaprice.org/health-topics/formula-homemade-baby-formula/

          Blessings,
          Eric Potter MD

  26. My family and I have been using Dr. Ben’s Seeking Health vitamins and supplements. We have seen very positive changes in our 7 year old since starting her on an appropriate vitamin. As a side note – My children (3 and 7) are able to swallow the Children’s Multivitamin. We have also used his multivitamin powder in smoothies. (Remember to adjust/modify the amount accordingly to your children’s age.) For myself I am thrilled with the prenatal and also have my husband on the adult multivitamin. Thank you Katie for being this to the table….an extremely helpful topic for so many.

  27. I am so glad you did a post on this!! I have all eleven of my children (all adopted) on either B complex or folate/with high doses of B12. We have seen tremendous gains after introducing these supplements. Our family had been on the GAPS diet for 3.5 years and we still could not introduce new foods. Within a very short time after starting these supplements (like one week), we have introduced many new foods and lingering skin problems and behavior problems have disappeared. For us, this has been the missing puzzle piece in our search for wellness. I have written about our success on thecrunchymuffin.com Just look under “folate”. I am so glad I can refer my friends to this post. It is a complicated topic and it’s nice to have your post with all the links.

    Teresa

  28. I am worried about your recommendation to avoid folic acid. My second daughter died an hour after birth, due to anencephaly. Although the cause for this condition is not known, folic acid deficiency is related. Taking a high level of folic acid after having this happen has been proven to substantially lower the risk of recurrence.

    • folic acid is the synthetic form of folate. The body absorbs folate better and it does the same thing. Taking folate absolutely suffices, it is just the natural form. I agree supplementation is important, but folate is shown to be more effective than folic acid.

  29. My doctor does MTHFR test through ALCAT. Do you know if this is a reliable test? How does this compare to the others that you recommend here?
    Thanks!

  30. Hi. Katie I too have Hashimotos. I have lots of food allergies to boot. My former naturopath suggested that I may have mthfr “issues” without testing. Said testing was very expensive. She had me start taking folate. I was curious if you take folate each day for this?
    I was told by my endo dr that taking folate is not safe long term.
    Aside from the infra red saunas etc that you do for detoxifying …what do you do or take on a daily basis for your mthfr issue? Do you take folate everyday? Thank you so much for your time and info!!
    If possible could you tell me what supplements you take each and everyday? And for what. THANK YOU!!!!

    • Working on more posts about my specific MTHFR stuff… I take L-5-MTHF and methylated b-vitamins each day but in levels specific to my tests…

      • Thanks. Not to appear dense…
        But do you take folate at all or everyday for this issue?

  31. I just recently tested positive for the MTHFR mutation. I have been taking a natural thyroid supplement and just realized it contains b12. Any suggestions for a thyroid supplement that would work? Thank you!

  32. I just tested positive for the MTHFR. Any suggestions for a natural thyroid supplement? The one I am taking has b12 in it and now I am unsure if I should be taking it. Thank you in advance!

    • I’m on wp-throid for thyroid support but it has to be prescribed by a doctor

  33. Hi Katie, how do you feel about Numedica’s Neuromethylation Cream? I’ve though about investing in some since it contains all the basic necessities for those dealing with MTHFR, but I don’t love some of the ingredients listed (PEG’s,etc.)…wondering how you feel about it, or if you have a better recommendation? Thanks! (For a little background, I’m 35 & have two copies of the c677t. We have three lovely kiddos, and didn’t have a single problem conceiving or carriying to term until I miscarried last November at 13 weeks with our fourth…)

    • I’ve seen some good results with the transdermal nutrients for MTHFR but have not tried it myself. I also had not found one without some questionable ingredients but I would think that the benefits could outweigh the risks of the ingredients if you were homozygous and struggling with specific deficiencies.

  34. We were recently told that my son who was born with a limb difference and had gone through 3.5 years of chemo for ALL leukemia has the double mutation which puts him at much higher risk for heart problems and cancer (hello!). Now the rest of the family is getting tested too. The only reason we know about it is that we found a holistic pediatrician who looks for nutritional deficiencies. My folate and B12 levels have never been checked and I get bloodwork done yearly. I’m now looking for a holistic GP as well. It is good to hear that there may be help for women who have fertility issues as a result of this gene. Thank you for writing this, it was much easier to digest than the other articles I have seen online.

  35. Hello Denise, you can look at MTHFR.net or MTHFRSupport.com for holistic practitioners in your area.

    • Thank you!

  36. Hey,
    So I am kinda in the process of looking into getting tested. From the LONGGGG line of autoimmune diseases in my family just from my grandparents down to us grandchildren there are 9 different autoimmune diseases and so I am starting to feel a shift in my body at 32. I don’t believe in am in a HUGE hole yet but joint pain and developing preeclampsia with my son 1 year ago and i have had just a lot of different things that line up. My real question is if you know or if you know of a legitamite site that i can learn about this in pregnancy and mythlfolate breastfeeding and in pregnancy. I am wanting to get pregnant again soon and really want to get this started before i conceive. if you have any recources that you know of that you could shoot my way i would appreciate that a lot! Thank you!
    Sarah

  37. Hi – I found your website a while ago and have been using some of your beauty recipes – and I love them because you seem have worked out the trial and error part and I always seem to love your finished recipes! Today I was looking around and found this part of your page that I have never looked at before. I am heterozygous positive for C677T and A1298C (and a few other mutations that compound and complicate this) , I was tested about 10 years ago because my mom was following Dr. Amy Yasko’s work, but never had a doctor get involved in that part of my health. I have eaten right, taken as many of the right supplements as I can afford and taken good care of myself. But, in spite of that, at age 42 my health is declining. I became disabled about 4 years ago to a spine and neck injury, but have been unable to get disability due to lack of medical proof – no one seems to “get” why my body is over-inflamed to “small” MRI proven injuries (I of course know its at least in part due to this). Then, the problems that these mutations cause have now reared their ugly head again. So even if I was able to recover from my injuries (which is unlikely since i have literally tried EVERYTHING), all the things these mutations cause would also prevent me from holding down a regular full time job (I cannot be around any chemicals anymore at all, like I can’t be in the same room with people who wear scented deodarant or lotions etc all day long). I know this is a strange question and also TMI for the public, but because most mainstream doctors look at me like I’m crazy/stupid/lieing when I bring this up, I have been unsuccessful in finding a doctor to write about this and explain why it causes me issues (even though I understand it quite clearly). I am in desperate need to find a MD (can’t be a ND or nurse practitioner and such) that will look at my tests and talk to me and write a letter of support for me to submit to Disability. I’m not explaining my whole novel long story, but the short of it is, I need an MD who is up on this. I know this is grasping at straws – but is there any chance you know of an MD who is up on this who I could contact? Even if they aren’t in Montana (where I’m from), if you have a line of any doctor who is up on this mutation and the subsequent symptoms, I would really appreciate you letting me know and I could try to see if they would help me! Thank you! – Jessica

  38. I was diagnosed heterozygous on both defects this week. I live in a state with zero MTHFR trained doctors, although my functional medicine doc is currently learning more. I was being seen for poor thyroid conversion, insomnia, auto immune urticaria, and loose stools. She also ordered a comprehensive stool panel. She started by ordering a few labs and then we will talk meds. I am currently taking probiotics, omega, ashwaganda and Thyrosol. Is the Iodine in Thyrosol safe for me? Any thoughts on how to proceed from here? I want to be my own advocate, considering Dr. is learning about this alongside me.

    Thinking about starting at a sauna in the fall. I exercise 4-5x per week but am not a big sweater by nature.

    I have never ever worried about heart problems, my weight has always been good and I eat and exercise well. But now I am adding heart to my list of things to worry about (eeek).

    Will proper supplementation lessen the risks of all these diseases? I am eating clean as well, and avoiding chemicals when I can. What about swimming this summer with my kids?? 🙁

  39. I can’t describe how helpful this blog article is. I know my father has the defect and so have been taking the methylated form of folate in case I too have it, but the symptoms you describe are spot on to the problems I’ve been having so long. I’ve been going through IVF and while my chances are good (I have a very high ovarian reserve, just a blocked tube and some egg quality issues) and I have made so many positive lifestyle changes in the last year (chemical free, better supplementation, better diet, more activity), I have been suffering physically from the drugs and hormonal changes.

    You have given me a lot to think about and look into further. I had a slew of blood tests done recently to try and find out “what is wrong with me” (my symptoms started long before the IVF but have exploded since) and of course nothing has shown up yet. This is one thing they didn’t test.

    This was especially enlightening because while I take methyl-folate, I did not know I should be avoiding folic acid. I need to pay more attention to that.

    Thank you for your blog. I end up here so often doing various searches trying to improve my life. It seems like every question I ask Google, you have the answer, haha! Well, at least the answer that I trust the most! I know I will be pregnant eventually, even if we have to move on to donor eggs, so I’m doing all I can to try and make my “nest” a healthy place. Thank you for helping me 🙂

  40. Hi there wellness mama..like you im trying to make better choices for my family. I have a mthfr gene mutation and have suffered from illness resorting from this.
    Cervical cancer and endometriosis..stomach digestion disorders and so on.
    Ive manged to have 2 beautiful children and im now 30. Ive been treated for my heterozygous nutation..but assuming my boys may have it..is there any safe supplements i can give my boys there 2 and 5? My husband will be tested to make sure my boys arent homozygous…your time is appreciated.
    Warm regards kristina

  41. I have a friend with a MTHFR mutation. I was talking to her and discovered that I share a lot of symptoms. I made a doctors appointment with my primary care physician in a couple weeks. I am going with the assumption that she knows little or nothing about MTHFR mutations. I’m just hoping she can get me tested and give me a referral to someone who can help if I come out positive. What questions should I ask? Is there certain types of testing I should ask for? Type of people I should ask for referral to if she doesn’t know?

    • Look at MTHFR.net for MTHFR literate provider near you. Call and find out what they know about MTHFR and how they approach it. Make sure they really know it.

    • Further:
      Don’t expect your average doctor to even know who to refer you to. That would be unusual.
      Questions would start with to a MTHFR doc.: “What is your general approach to MTHFR?” “How do I know if MTHFR is affecting me?”
      Then: “What type of testing beyond genetics are needed?” “What doses of methylfolate or methyB12 do you use (if they have one standard dose, then they are not customizing it for you and it won’t work)?”
      If they just say take methylfolate, then keep looking. It is not that simple.

  42. Juicing greens is a solid option for MTHFR. A bundle of spinach contains 165% of the RDA for folate and it’s the active form you need.

    I’d love to do a test for it but in the mean time I make sure I meet (and exceed) all nutrient requirements through food.

  43. Today when I was speaking to my niece when I learn that her, her father, mother and grandmother (my mother) have MTHFR. She told me that she didn’t want to tell me about this because I have a very difficult time with just about any type of stress.
    In Dec of 2012 my supervisor at work told that I might have to move to a different place that would require me to drive about 4 hours a day to and from home. During that week my body ended up with meningitis, Belles Palsy and shingles. After spending a week in the hospital I told my wife that I couldn’t make the change and I retired at 58.
    I am wondering is MTHFR is the cause or it could be related to other issues. However in 1974 spent 28 days in a coma from a motorcycle accident in which I have taken 100 mg Dilantin for almost 41 years which equals more than 45,000 times. I would appreciate anything that could assist me to get better.

  44. My 2 yr old was born with 3 midline deficiencies. My research has me interested in taking folate instead of folic acid, as we are trying to conceive. I would love your ideas and recommendations for supplements and prenatal a!
    Thanks so much!

  45. Thank you for this great explanation. I just found out that I have MTHFR. What do you think about using hair color? Is there some form that I can use?

    Thank you!
    Deb

  46. After reading this article, I researched a little more and found this article on MTHFR https://www.sciencebasedmedicine.org/dubious-mthfr-genetic-mutation-testing/ that is worth a read before paying for online genetics testing. The article points out that Ben Lynch, whose site is linked to in the above article, has never published any peer-reviewed research at all.

    • Dear Katy,
      You might want to watch a few of Ben Lynch’s lectures before being so harsh. He is not a researcher in the sense that he does clinical studies and gets published, but he researches topics and provides the findings to others. His lectures cite numerous studies as evidence for his positions. I have studied this topic for hours and found his “research” to be very useful and true.
      Blessings,
      Eric Potter MD

  47. I was told I have the mthfr mutations, stay away from folic acid and B12 and take methylb12 and folate 5 mthf. I found a b complex and have take almost the whole bottle but started yesterday feeling horrible. Worse than I had been feeling which is foggy/spacey/dizzy/ almost on verge of migraine/ vision worsening/ sharp spots in vision ( migraine related), fatigue always, out of breath easily, eyes hurt, head hurts…….yesterday felt faint…… Is it die off of the toxins?

    What do I do? what can I take to feel better?
    Don’t see integrative Dr. until Dec and she is on vacation until Nov.

    She had me taking the Bcomplex, lysine, monolaurin, magnesium, neuro mag, turmeric, cucubrain, Vit E dry, fish oil, 5 htp, bilberry, D3 and I tried maca on my own for my perimenopause symptoms for two days and ended up with racing heart, and chills, so stopped it and also started with milk thistle two days ago too and stopped it last night when feeling so badly. Heard that the milk thistle can help with the gluthione making process naturally.

    The methylation thing , I know it is trial and error. Guess this is my error. The bcomplex I take has the folate (as Metafolin®, L-5-MTHF)400 mcg. and vitamin B12 (as methylcobalamin)400 mcg. Is that too much? I can’t find one with less.

    Should I just stop a few days? What can I take to feel better?

    Finding supplements is hard for me they have to be egg, gluten, diary, nut, yeast, msg. Regular Dr. doesn’t help. Had tons of test, MRI’s etc… all healthy but Integrative Dr. found a lot wrong. Says she is amazed I function, it is like I just had chemo she said from my blood work. I just want to be better. Hate mostly being on verge of migraine and not seeing well. I guess the detoxing is inducing migraine like symptoms but not full blown migraine/ aura.
    Any advise would be so appreciated. Thank you

  48. There is a lot more needed to answer those questions, but I can say that Seeking Health has products that do a good job with avoiding allergens in their products.

    As for dosages of MTHF and M-B12, those are not high doses, but everyone is a little different (meaning that everyone is a unique case).

    Blessings

  49. I found out I carried mutations C677T and A1298C when I did a 23andMe kit. My husband and I are both in molecular biology and decided to do 23andMe for Christmas one year. I didn’t think anything of it for several years…
    I was fortunate that my first pregnancy was quite healthy, despite my hypothoyroidism (which I didn’t realize was related to MTHFR until reading this post). However, my daughter was born with severe tongue and lip tie and a sacral dimple, which is a spinal cord defect. I recently learned this is often due to MTHFR mutations in either the mother or the child. We were lucky that her conditions were completely curable. I’m currently 36 weeks pregnant with the second and have been careful to take methylated folate during this pregnancy. Hopefully this child won’t experience some of those problems that my first did.

  50. Hi Wellness Mama!

    Thank you so much for posting this!!!!! I did 23 and me and found out I have homozygous MTHFR C677T. I was wondering which one you have and is there anything else you take for this? I saw baby aspirin is suggested. Do you do this and can you take it when pregnant?

    • That isn’t the one I have, but I have heard of taking baby aspirin, even when pregnant. I’d try to find a doctor who has an understanding of gene mutations or see if Dr. Ben Lynch has written about that specifically.

    • As a physician who takes care of MTHFR mutations in patients, there is more to it than aspirin. Find someone to guide you through it.
      Blessings,

  51. Hi wellness mumma i have the (a) mutation cant remember the number lol
    I have kids and i have hormonal acne…what do u recommend..ive altered diet and supplements..do u think mthfr affects my acne at all? It happens on ovulation…
    Kind regards kristina

  52. Hi Wellness Mama,
    Is there someone you recommend to get a phone consult with? I did the 23 and me and some of the things suggested conflict with other.. I have had fatigue most of my life and have been trying to figure out how to fix it. I also have acne, social anxiety and depression. I am 38 and moving to Salem, OR. I would really appreciate any advice.

    I am homozygous for: VDR Taq, MAO-A R297R, MTHFR C677T and BHMT-08.
    I am heterzygous for COMT V158M, COMT H62H, MTR A2756G, MTRR A664A, BHMT-02 and BHMT-04.

    For detox homozygous for SOD2 A16V, NAT2 I114T and NAT2 K268R.

  53. PLEASE PLEASE someone clarify this for me. I understand that individuals with a MTHFR are poor converters of synthetic folic acid and that it just build ups and blocks the pathway for the naturally occurring folate from food to get through and should be avoided. BUT are they also poor converters of natural occurring folate??? And hence the need to possibly supplement depending on the severity of the mutation. I hope this makes sense. Because if we are not poor converters of folate in food than this is just ultimately an issue about the synthetic version, and would appear that the MTHFR mutation is really not relevant at all… Other than avoiding the synthetic folic acid. In other words…. This is a government created health hazard more than anything. Thank you to anyone that can clarify this for me.

  54. My son, 11, was just diagnosed with having both the C677T and the A1298C mutations. He also has Ehlers Danlos Syndrome Hypermobility Type and Asperger’s Syndrome. I am not sure where to go from here. I also see that he has the -141C Ins/Del Variant. I have been trying to find information on the genetic issues and what he should and should not have, but keep running into a wall. Any information would be wonderful.

  55. I’ve just found out that I have the MTHFR mutation, I’m in a major learning curve. One thing I’m confused with is the Wellness Mama says she uses ferments, which I thought was a good idea. Then I read on Dr. Lynch’s sight that they can cause histamine reaction.
    How can I find out what works for me? Thanks for any info.

    • As I’ve found over the last couple of years, genetic mutations can vary drastically from person to person and depend also on other mutations you may have. I’d recommend reading Dr. Lynch’s info in depth on your specific mutations and experimenting to find what works for you. I don’t have a histamine reaction from ferments but some people do.

  56. This can be a complicated and overwhelming subject for many – please don’t give up you are suffering from fatigue, heart rhythm, thyroid or other issues! Remember you are your own best advocate and resource. If traditional medical doctors aren’t helping, you may want to consider consulting with a functional medicine doc. Stay positive!!!

  57. Hello, has anyone used the Seeking Health multivitamin that is recommended on the mthfr.net website? I was just curious as to what you thought of this product.

    • We offer Seeking Health products including the Multivitamins in our practice (at cost) and really like them. They are free of a numerous of potential allergens. That makes it easier for us to not worry about which ones might trigger a reaction in a given patient.
      Blessings,
      Dr. P.

      • Thanks, what is the reason for the chromium do you suspect? I have noticed that they def give you a zing. I do not drink caffeine so maybe it is the green tea in it.

    • Hi Lauren,

      Another option you might be interested in is the company Thorne. They make a lot of products compatible for mthfr considerations (folate instead of folic acid, etc.). I’ve taken the Thorne Prenatal and the Thorne B Complex with good results. I was interested in the Seeking Health products, but the Thorne versions were more affordable for me. Good luck with whatever you try!

  58. Hi Katie- thanks so much for all you do! I enjoy reading your blog and have learned and implemented a lot of changes in my family.

    So- just found out my son has mthfr mutation. Started doing some research and some sites talked about no dairy. We already eat very clean. I was wondering if raw versus pasturized made a difference with this and why you choose to continue eating dairy? I consider raw dairy to be a great source of health- but now I am worried

    • I personally seem to do ok with dairy but know many people with an MTHFR mutation do not. Perhaps consult a specialist or try an elimination diet to see what works best for him?

  59. I was diagnoised with homozygous A1298C and i have low homocysteine (3.5 in a range of 5-20). Currently taking 400mg SAMe as per Dr’s orders to increase it. I have had full thyroid removal 6 yrs ago, gall bladder removed 3 yrs ago just 2 months after a emergency c-setion at 32 weeks to deliver my b/g twins. My girl was diagnoised 6 months ago at 2 1/2 with coeliac disease and had adult sized tonsils obstructing her airway. Her brother has wheezing and the coeliac gene (awaiting biopsy). I wonder if I should be getting them tested too as I bet they both have it. I am worried about have a 3rd child as I had such a hard pregnancy as it was (unknown gallstones beinga chunk of it). I currently take NDT, Adrenal Support as I have low cortisol issues and SAMe. I also have to have B12 injections every month (every 3 weeks when pregnant). I hope in a few months I start to feel normal as such and enjoy life like I should as a mum to 3 yr old twins.

  60. Hi I’m 29, I’ve been increasingly been getting sicker and just found out I’m missing the enzine entirely. Thank you for your post I have a dr but I still have so much to learn on how to feel better. Thank you for the information !!!! I feel hopeful!!

  61. Hello

    Im 30 years old, in 2015 I had two early miscarriages(6 and 8 weeks). I have not been diagnosed with the MTHFR mutation but am going to be asking my Dr. to check for this. I have been dealing with Anxiety and Depression for 10+ years. My father also deals with Depression so all this information has been super helpful. Thank you for bringing it to everyones attention. One question I have for you is if i do have this mutated gene do you recommend I stop taking New Chapter Prenatal Vitamin? and just try out the suggested L-5-MTHF?

    Katie

    • I hope you find answers soon and I am so sorry for your losses. I personally took the Seeking Health prenatal this pregnancy (http://amzn.to/1KG5g0L) because it has they methylated form and no extra L-5-MTHF is needed but after your doctor tests you, he or she should be able to help you know what specific nutrients you will need in what amount.

  62. I was hoping you could help me understand something about MTHFR and methylation in general. It is my understanding that being heterozygous or homozygous MTHFR C677t reduces your ability to convert synthetic folic acid to a usable methylated form. It is also my understanding that natural folate from foods is already in a usable form and thus does not need to be converted. If this is true, why is being heterozygous/homozygous for 677t a problem at all then? If synthetic folic acid (which may get in the way of natural folate use) is removed from diet and adequate amounts of natural folate are consumed, shouldn’t a person who is heterozygous/homozygous for 677t be able to methylate as well as everyone else? Or does heterozygous/homozygous MTHFR cause a reduction of methylation in general or cause other issues even if there is plenty of activated folate to use? It would seem that everyone regardless of their MTHFR status would require the same amount of activated folate. It would appear that the only difference would be that some of the population are able to convert synthetic folic acid to activated folate easier than others. Any help understanding would be appreciated!

    • Yeah this is my sentiment exactly ! I’m unclear on whether or not MTHFR mutation also affects the conversion of naturally occurring folate in food. Thus requiring supplementation with methylfolate. Or is this mutation indeed irrelevant and more of a government created health hazard. I can’t seem to find a clear answer on this. There is a website called methyl life (they sell vitamins) but they have a picture chart on there that suggests that folate also has to be converted to methylfolate. I’m not sure if that still answers our question though. Which I believe to the most relevant question of all.

  63. I haven’t tested for MTHFR (yet). Is it ok (safe, a good idea, etc) to take L methyl folate and cobalamin and avoid the synthetic version of folic acid even if I don’t know if i have the MTHFR mutation?

  64. Hi,

    My husband has an MTHFR mutation. We’re trying to get pregnant right now. I’m taking the Garden of Life Organic prenatal vitamin:
    http://amzn.to/20D0mZY

    It contains 800 mcg of Folate (from an organic food blend). Should I be taking a different methylated form of Folate? I absorb the folate fine as I have no mutation. Is there a chance that my baby won’t if they have the mutation?

    Thanks for your time.

  65. Thanks for this very helpful article! The whole MTHFR thing can be very confusing! I recently found out I have this, which I think has been a contributor to my postpartum depression issues. Thanks for this good general overview to make it less daunting.

  66. Hi, I am so glad to finally read something about this that makes sense to me. It seems like there isnt alot of information out there on MTHFR. When I have mentioned it to Drs they look at me like Im crazy and have no idea what it is. Only my neurologist seemed to know about it. Thank you so much for sharing this!

  67. Wellness Mama,
    Thanks again. I don’t care whether you post this comment or not, but our practice in Spring Hill, TN cares for a large number of patients with MTFHR (and other SNPs). If you ever considered recommending a doctor to someone, please keep us in mind. I would be glad to meet you by phone or in person if you wanted to do so. Our website is http://www.sanctuarymedicalcare.com.
    Blessings,
    Eric Potter MD

    • Thanks Eric… I’ve actually sent people your way before. Approving this so others can find you too 🙂

  68. Hi Katie,

    Both my mother and I share the MTHFR gene mutation but it wasn’t until recently we found this out. Immediately upon learning, I did a ton of research, esp having three kids. My question to you is, in 2 of my pregnancies I was diagnosed with HELLP syndrome, Have you, in your research, come across anything linking these two? After reading about both it doesn’t see completely bizarre they would correlate somehow. Also, my young daughter and I daily take the fermented cod liver oil you recommend but have recently read people with this mutation should avoid fish oil supplements as this mutation makes it harder to clear those metals, Have you ever found this to be true/ an issue in any research you’ve come across?

    Thanks!
    Deena

  69. I take Deplin 7.5 mg to correct this problem. My homocysteine levels are now in the normal range. My endocrinologist found this problem a few years ago. Every time I see her she apologizes for not finding the problem sooner.
    Deplin is expensive A 90 day supply will cost you about $200 or more

    • Donna, I was taking Deplin as well for a couple years, but my insurance changed this year and it is no longer covered. I looked into it to determine whether I actually needed it or could find a supplement that would work the same. To me, it seemed to simply be a “patented” version of the l-methylfolate. Not sure why I couldn’t take the l-methylfolate itself from a company that I trust and that puts all the ingredients on the label and save money. So that is what I’ve been doing for a while now.

  70. Dear Katie,
    I am very confused with the blood results from my MTHFR blood test taken in 2011 in Australia. The results read – Specimen EDTA Blood
    MTHFR C677T Heterozygous Mutation Detected
    Please note these variants are known as c.665C>T, p.Ala222Val and
    c.1286A>C, p.Glu429Ala, according to HGVS nomenclature;
    RefSeqGene: NM_005957.4.

    Does this mean I have the MTHFR C677T Heterozygous mutation gene? what does it mean when people say they are a carrier versus they have the MTHFR C677T gene? I am really confused and the dr who did the test is no longer available. Any clarity from anyone would be greatly appreciated.
    Kindest regards,
    Angela

    • When you are heterozygous, that means that one of the alleles on the C677T gene is mutated and the other allele may or may not compensate.

  71. Thank you, thank you, thank you, a million times, thank you so much for taking the time to put this article together! You have no idea how much this has helped me to discover and research my own MTHFR mutation. You are wonderful!

  72. I’m honestly so grateful of your post and the time and effort you put into helping others better understand a new diagnosis . I’m personally having an extremely hard time taking all this in. At age 4 I was diagnosed with Juvinile Rheumatoid Artheitis, Age 14 Fibromyalgia, I’ve had 2 TMJ surgeries . So now in the last 3 months in having face more diagnosis that honestly has me scared to death ?. ADHD (which I’m halfway okay with,MVP, idiopathic hypersomia , Small Fiber Neuropathy (positive biopsy) Vit B deficiency, MTHFR & the worst of all Porphoria (which I’ve been an emotional wreck and I’m having extreme panic attacks ). I tested positive for this but my Hematologist ordered new labs that haven’t came back . I have taken every biologic meds out there , pills, injections & infusions. I’m currently on a fairly strong infusion that I don’t feel comfortable taking . It seems after I’ve been taking my infusions all of these new diagnosis began. I know most of them are genetic related but will y’all please if y’all think I should continue them ?I’m getting them due to my RA. I have lost so much cognitively & more bad days than good days . I know this is a little off the topic but I’m in my late 30’s and I have 2 kids. I WAS SHOCKED to see how this also can affect pregnancies too. I had one miscarriage in between my kids. I also had a preemie that was place on life support and she thankfully pulled through. She has went through more from the moment she was born . Feeding tube , AFO braces for her little legs, fondo surgery (wrapping her tummy around her esophagus) . She has a very abnormal Mri that shows she should not be able to walk, talk or anything . But I will say GOD has pulled us through, looking at her today you would never know she had anything wrong with her other than her gait & some emotional problems . With the dr’s not understanding why and what was going on. She too was genetically tested & all they found was she was a carrier of Wilsons Disease and 1 more that they refused to share with us until they found out more in depth info . Well that’s been 3 years ago and we never heard back from them . I’m just wondering if this MYHFR could have affected her . I do apologize for such a lengthy post . I’m just really scared and feel so alone ?

  73. Hi Wellness Mama,
    thank you for the article. I have Heterozygous MTHRF C677T gene and started taking Deplin a few weeks ago. It was suggested by a Psychiatrist for my son, who has the same gene and hence, reduced folic acid conversion. The Psychiatrist was a little skeptical on it helping us, but I’m seeing a difference in both my son and myself. I have more energy and laugh more, my son is acting more maturely and his signs of depression have disappeared. We have no depression in our family history and were relieved to find this possible “problem” gene and that the Deplin is helping.

    The reason I’m responding to you: I found your article, when getting curious about something I read about miscarriages. I had one at second trimester in 2001, and had bleeding during my first pregnancy in 2000. Blessedly, I have two healthy children, but am now wondering, if this research had been more on my OBGYN’s radar (if it was available), if the miscarriage had been avoided. The reason for the miscarriage was unknown, but the way it was explained to me was that there was lots of blood between the uterus and the sack, and it seems to have separated the sack from the uterus wall. Now I’m wondering, if this was due to the MTHRF C677 T heterozygous gene?

    I got my test done with the saliva swipe, super easy. Deplin is expensive, I”m getting it from a reputable online pharmacy for about $175/3 months. Thank you for posting findings and research, and having people find answers for themselves in this online forum.

    • Hi Helena,

      I am sorry to hear about losing your baby.

      I too am heterozygous C677. I found out about the mutation after we lost our first baby at 23+ weeks. I had what was called a subchorionic bleed, which is probably what you had (bleeding between the uterine wall and the placenta; i.e. where the two are supposed to be attached). Subchorionic bleeds are fairly common and many women have them, but don’t know unless it’s visible during an ultrasound; they don’t experience any vaginal bleeding. My bleed was massive. Either way, at the time of losing our baby (2010) they told me that this MTHFR C677 mutation had nothing to do with the bleed, etc.. Thankfully, like you, we’ve been blessed with two more children, but with my third baby I had a lot of bleeding almost throughout the entire pregnancy (from week 16 on). I did not have a subchorionic bleed though, I just had a big “random” blood clot. By God’s grace, the clot did not interfere with the placenta and the baby growing, and she was born full term.

      Either way, I am convinced that the subchorionic bleed and the blood clot are related to the MTHFR C677 mutation, even though most doctors will dismiss it as being a cause and or a contributing factor. Of course, during all my pregnancies (and in between) I was taking a prenatal vitamin with folic acid, which you might know, is not good for those of us with any kind of MTHFR mutation.

      However, you should know that the C677 mutation is the less researched than the A1298C mutation and is believed to be less problematic, but I’m pretty sure it’s having some negative effect on my body. Of course, our bodies are affected by so many different things that it’s hard to say it’s just “one” thing.

      Anyway, I’ve struggled with anxiety for a long time and since I started looking into MTHFR and subsequently taking a B-complex vitamin with l-Methylfolate and Methylcobalamin, etc. I have seen great improvement. Seriously, great improvement! I am not a doctor, but you (and your son) might want to consider supplementing with a high-quality B-complex vitamin instead of the Deplin. Again, I am not a doctor or expert; I’m just sharing my experience. Maybe this is something for you to consider :).

      All the best to you and yours!
      Roxana

  74. Hi,
    Does anyone know anything about having high serum b12 levels with a double c677t mutation? My bloodwork looked very well except for the high b12. My integrative doctor said that high b12 is not dangerous but if you google high b12 levels it brings up scary results from cancer to liver and kidney disease.
    I am assuming that maybe my high b12 levels are associated with my mthfr mutation but I do t know.
    I have active Lyme that I am treating with Cowden’s herbs and I am working on keeping my yeast levels down as well with diet and caprylic acid and probiotics.
    Thank you for any advice you might have!
    -Jen

  75. I wanted to share an article that really explains it simply how to do the protocol. Also, it is very important to start B12 first before the methylfolate and to take the right form of B12 for you. Also, do not take too high of a dose of methylfolate…you need to work up to it. I had a reaction to methylfolate because I did not know about the B12 and I took too high of a dose. I hope this helps: http://mthfrliving.com/health-tips/supplementing-for-mthfr-b12/

  76. Hi, I was just diagnosed as compound heterozygous. Thankfully, I’ve had 2 pregnancies and 2 live births before I knew about the mutation. I’ve been told that for the next pregnancy I will “simply” be given Lovenox injections. Aside from the discomfort and side effects, is there anything else I should know about these? Long term consequences? Do they add something to my body I can’t detoxify properly? Anything else? I feel like I don’t even know the right questions to ask yet, as I’m still researching this. Thanks!

  77. Hi Katie,
    I am a huge fan of you and this blog, it’s been life changing. I just found out I have the MTHFR mutation (compound heterozygote) and need to avoid the folic acid, which means ditching my multivitamin. I will take the methylfolate and the methyl B12 but do you have any recommendations on a multi? I was using Rainbow Light’s Just Once for women. Any suggestions you may have would be greatly appreciated!!

    • Seeking health has a good MTHFR safe multi.

      • Can you take a vitamin that is MTHFR safe even if you have not been tested for this gene? I would rather be safe then sorry.

  78. Wow….so impressed. I recently had my test done and have 10% of the Hetro gene….My Dr said that it is common at that level. I had my hair mineral analysis done and showed that I have medium levels of mercury and high magnesium and calcium but apparently I am not absorbing them the minerals. I also have osteoporosis.

  79. Hi, I’ve been a real fan of your website for the past year, but I NEVER saw this. I got unexplainably sick two months before school was out, suddenly throwing up everything I had for lunch that day. The vomiting decreased over the summer to maybe every 1-3 days, but I’ve just felt horrible. I’ve been exhausted, very dizzy when I try to move, and not able to sleep most nights among other things. My general doctor said everything was fine (um no) and I ended up finally changing doctors, the new one sending me to a gastroenterologist who did a scope and found thrush at the bottom of my esophagus. That’s supposed to be gone, but I still wasn’t better. I was poked, prodded, and had more blood drawn than I thought I had when just last week an Internist finally had results. Apparently, I had a list of things!
    Lyme
    Low immune system
    Rocky Mountain spotted fever
    One mutation of MTHFR
    Autonomic dysfunction/POTS

    I also have anxiety which was diagnosed about a year ago. Now, Rocky Mountain spotted fever is usually fatal if not treated within a week and I had been undiagnosed for months. It’s been a long crazy ordeal, but we’ve already started shots once a week of an activated form of b vitamin and already I feel a difference. I’m still physically very drained and obviously ill, but I actually feel alive again. It’s great to see this post here and times can only go up!

  80. Are any of these tests, or Dr. Visits covered by insurance, if so, any in the Los Angeles area, that can be recommended? thank you!

  81. Hi, I did the 23 and me testing to find out if I have the MTHFR mutation, but even after getting the data back, I don’t know if I have it or not! There’s no easy way to tell from the results, and when I called them, they were totally evasive and did not help me see how on earth to tell from the report whether I have MTHFR or not. Am I missing something? It is that you have to take the results to someone who is trained to interpret them?

    • Hi Julia, you can find out by downloading your “Raw Data” zip file on 23andMe. Then upload it online to a site called Genetic Genie.org. They are a free site that will let you know of any genetic polymorphisms in the MTHF, as well as other health relevant SNPs that may be found in your raw data. This is the site most people find out about their mutations on. As far as getting the results interpreted, I recommend the HHP that interpreted mine. I sent her my raw data zip file from my 23andMe, and she sent me a nice report containing all of my mutations, what they mean, what symptoms are associated with them, and personalized a recommended protocol for me. Certain combinations of MTHF with other mutations like DAO, COMT, CBS, VDR, & others need to be considered before simply treating with methylfolate. Otherwise, if the other SNP’s aren’t taken into account, methylfolate can exacerbate symptoms for some with certain SNP combinations. I found this to be super confusing, so I paid to get it all done for me at http://www.elevatedhealthsolutions.com. They were having a September Sale for this service so it was well worth the money in my opinion, because the report contained lots of information, and helped me to understand exactly what these mutations meant, what to take, what to avoid, including foods and things.

      • Hi Alyssa,

        I am super grateful to you for taking the time to respond to me, you’ve really helped me so much, thank you a million! Now I know what to do for the next step…solving the riddle of why I don’t sleep at all at night for days on end. Bless you and thanks again!

        Hug,
        Julia

  82. Julia, there are different websites that you can upload your raw data to and it will read the results for you. There are some links in this article. 🙂

    • Thank you Lisa! Encouragement received to read this thread thoroughly, I appreciate you taking the time to respond 🙂

  83. Thank you so much for the breakdown of information. After years of complaining to my primary care doctor about fatigue, weight gain, and brain fog (who only tested TSH), I finally went to a private practice doctor who specializes in hormones. I, too, was diagnosed with Hashimotos and MTHFR mutation. I was given information about folic acid and supplements to avoid and encouraged to go gluten-free. Thank you for sharing your research.

  84. Oh. My. WOW. I am nearly speechless. Thank you for explaining this! I have not been tested for a MTHFR genetic defect, but your words are ringing LOUDLY in my ears, and my guess is that this absolutely has been a problem for me and would explain why I’ve been feeling so terrible for the past 2 years. I am going to follow through on the testing protocol and in the meantime take steps to help myself as though I have the defect. Thank you, thank you, thank you!!