What Is a MTHFR Mutation?

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What is an MTHFR gene mutation
Wellness Mama » Blog » Health » What Is a MTHFR 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 the 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 popular 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 able 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.


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.


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

Additional Resources

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

Have you ever been tested for MTHFR? Please share your experience to help others!

This article was medically reviewed by Dr. Scott Soerries, MD, Family Physician and Medical Director of SteadyMD. As always, this is not personal medical advice and we recommend that you talk with your doctor.

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.
Katie Wells Avatar

About Katie Wells

Katie Wells, CTNC, MCHC, Founder of Wellness Mama and Co-founder of Wellnesse, has a background in research, journalism, and nutrition. As a mom of six, she turned to research and took health into her own hands to find answers to her health problems. WellnessMama.com is the culmination of her thousands of hours of research and all posts are medically reviewed and verified by the Wellness Mama research team. Katie is also the author of the bestselling books The Wellness Mama Cookbook and The Wellness Mama 5-Step Lifestyle Detox.


222 responses to “What Is a MTHFR Mutation?”

  1. Megan Avatar

    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? …

    1. Eric Potter MD Avatar
      Eric Potter MD

      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.
      Eric Potter MD
      Wholistic healthcare for the glory of God.

  2. Suzanna Avatar

    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.

    1. Eric Potter MD Avatar
      Eric Potter MD

      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.
      Eric Potter MD

    2. Bethany Avatar

      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?

    3. Carolyn Avatar

      The problem with this is that I almost died from extensive pulmonary embolisms in both lungs and DVT in various parts of my body. And my hematologist still just brushes this MTHFR mutation off, stating just what you said. I think there needs to be a happy middle here. If someone almost dies from this mutation (given there were no other factors when my symptoms first began) then it should be taken very seriously. I find that most doctors still just claim it is insignificant. My question is, why test at all then? Even in patients like me if doctors aren’t going to even offer suggestions about how to manage it? Needless to say, I can’t find another hematologist fast enough. The fact that my hematologist smiled at me when reading my results as if to say, “you’re all clear!” was frustrating. I am not “all clear.” I have clots in my lungs still and new DVT symptoms and every other mild-severe symptom of MTHFR aside from cancer. I even have symptoms of TIAs.

  3. Malori Avatar

    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.

  4. Lisa Avatar

    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?

    1. Eric Potter MD Avatar
      Eric Potter MD

      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.
      Eric Potter MD

        1. Carolyn Avatar

          I don’t know how old these comments are, but I would not be on birth control unless it was progesterone only or the copper IUD. I was just hospitalized with extensive (re: unable to count there were so many) clots in both of my lungs with symptoms of DVT in both legs, my left jugular, left brain, left arm, spine, and abdomen. This all happened 4 months after starting birth control again. Granted, I had symptoms of “mild” DVT for years, but the birth control seemed to push it over the edge into dangerous territory. I tested positive for heterozygous MTHFR this week and after researching, I realize I have every symptom associated with this mutation. Just please tell your daughter to be careful, and even the SLIGHTEST hint of DVT pain, go get checked. I brushed my “mild” symptoms off thinking there was no way I could have blood clots at such a young age, especially since I am fit and healthy and workout almost every day. But that doesn’t matter, unfortunately.

  5. Erin Cox Avatar

    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!

    1. Michelle Avatar

      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.

  6. Eric Potter MD Avatar
    Eric Potter MD

    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.
    Eric Potter MD

  7. Jennifer Avatar

    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.

  8. Cara Avatar

    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!

    1. Sarah Jane Avatar
      Sarah Jane

      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! 🙂

      1. Rachel Avatar

        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.

        1. Cynthia Avatar

          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.

      1. Stacy Avatar

        Dr Ben Lynch has a line of supplements through seekinghealth.com. I use his HomocysteX Plus and it works for me.

  9. Molly Avatar

    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. Jenna Avatar

    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?

    1. Holly F Avatar
      Holly F

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

      1. Jennifer Avatar

        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!

    2. Nancy Avatar

      You struggle with Candida, you said. I do, too. As you must know, toxic waste products given off by candida in the gut collect in every place in the body, making you feel ill all over, and especially in the places your body is the weakest. I’ve had symptoms manifest throughout my body at different times, and when I treat myself for Candida overgrowth the symptoms disappear. But it’s an auto-immune issue, which has brought me here, wondering if I have a methylation problem because I don’t assimilate vitamins and minerals well at all, even though my blood draws all show I have perfect blood. I think I will do a 23 and Me test to find out if I have this gene mutation.

  11. Andreea Popa Avatar
    Andreea Popa

    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


    1. Veronica Avatar

      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 :/

  12. aurelia Avatar

    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!

  13. Ryanne Avatar

    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?

    1. Bridget Avatar

      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

      1. Holly Avatar

        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.

        1. Bridget Avatar

          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!!

          1. Holly Avatar

            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.

          2. Gisele Avatar

            Bridget and Holly,
            I had two healthy babies after several miscarriages and trying to conceive for 9 years. I finally found a doctor and gave me aspirin and deplin daily and it worked. Good luck to y’all!!

        2. Holly F Avatar
          Holly F

          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 🙂

  14. Tutran Avatar

    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.

    1. Erin Avatar

      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.

    2. Erin Avatar

      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?

      1. Roxana Avatar

        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!

        1. Vito Avatar

          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

        2. Carolyn Avatar

          I just got results back that I have this same 1298C variation as well, and it says “no clinical significance.” Never mind that I just was diagnosed with “extensive” bilateral blood clots in my lungs with a lower right lung infarct at age 33, with symptoms starting when I was 25 at the latest. (I wasn’t able to connect the dots until now.) I have had symptoms of mini strokes since that age and am seeing a neurologist soon. And yet my hematologist who knows all of this smiled and said, “Don’t worry! The only thing you have is this SUPER common MTHFR gene that doesn’t typically cause any side effects!” Then what in the world were my “super common” pulmonary embolisms and TIA’s from? I honestly feel frustrated and terrified that no doctor seems to be concerned with this mutation. What is the point of even testing for it then if it’s “insignificant?”

      2. Claire Avatar

        Renzo’s vitamins for children have the methyl folate. They are great quality.

  15. Jill Avatar

    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!!

    1. Roxana Avatar

      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!

  16. Roxana Avatar

    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!

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

    1. Alena Belleque Avatar
      Alena Belleque

      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.

      1. Roxana Avatar

        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!

        1. Kate Avatar

          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!

          1. Roxana Avatar

            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!

          2. kate Avatar

            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!

      2. Melinda Lambert Avatar
        Melinda Lambert

        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. ?

      3. Pam Johnson Avatar
        Pam Johnson

        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. 🙁

      4. Amanda Avatar

        Alena, I am sorry for your losses! I too have had multiple early miscarriages, both documented and non-documented… we were lucky to have insurance that covered ivf 100%, however it did not help. After 2 years with a fertility doctor & being told my chances of getting pregnant with ivf vs natural were the same that there was nothi ng she could do to help.. I got pregnant on my own & stayed and currently 18 weeks….. what did I do? Switched my prenatal to Emeral Labs (purchased at Wholefoods) it has all your B vitamins co-ezymed.. I also take a baby aspirin (helps with clotting) and I took an herb called Vitex. Look into it, it can help with multiple early miscarriages. Best of luck!

  17. Janny Avatar

    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!

    1. Eric Potter MD Avatar
      Eric Potter MD

      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.
      Eric Potter MD
      Wholistic healthcare for the glory of God.

      1. Nancy Avatar

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

    2. Paget Avatar

      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.

      1. Amanda H Avatar
        Amanda H

        Hi…I am in a very similar situation as you. I am curious as to why you needed to take heparin throughout the pregnancy? Do you have history with blood clots? Thanks!
        Also side note if your willing to answer. Did you also have to maintain the heparin after delivery? If so for how long? Did that affect your ability to breastfeed if thats what you chose to do?

    3. Marissa Avatar

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

    4. Leighann Avatar

      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.

    5. Nikki Avatar

      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

      1. Leighann Avatar

        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.

      2. Nikhol Avatar


        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.

      3. Nikhol Avatar


        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.

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