I have been promising to write about MTHFR for a loooong time now.  I know some in my audience have been waiting for months.  I’m going to be really, really honest here . . . I have struggled with how to approach this topic more than any other topic I’ve ever tackled on this blog.  I was less afraid to write about infertility, despite it being a very private struggle.  If you could only see how many drafts I’ve started for this topic or how many hours of research were wasted, because I was paralyzed to write after reading.

I sat down again tonight to write and found myself in the same vicious cycle.  Then my husband said something perfect (’cause he’s perfect!), “You are not a research blogger.  You don’t need to present a flawless scientific write up.  You’re audience wants to know the human side.  Write about MTHFR from that perspective.”  He was 100% right, so here we go . . .

So, we need to start with the basics.  MTHFR stands for “methylenetetrahydrofolate reductase.”  Our MTHFR gene produces the MTHFR enzyme.  The enzyme works with folate (also known as B9 or folic acid) to convert the amino acid homocysteine into another amino acid that is used for multiple important processes in our bodies.  Basically, if this process is working correctly, your liver works better at eliminating toxins, inflammation is better controlled in your body, your immune system works better, you produce more of the neurotransmitters your brain needs to function well, and your cardiovascular system is healthier.  If you have a defect (called heterozygous) in this gene, you are at higher risk for many conditions, like coronary heart disease, venous thrombosis, dementia, fatty liver disease, anemia, increased inflammation, depression, a variety of cancers, stroke, miscarriages, migraines, and chemical sensitivities.  If you have a double defect (called homozygous) you are at an even higher risk for these conditions.  There are different ways the gene can be defective, two of the most common mutations are C677T (which is very serious) and A1298C (which is less serious).  Autoimmune disorders and MTHFR genetic mutations are pretty clearly linked.

I am homozygous C677T.  Yep, you got it.  I have two copies of the worst mutation.  This is where we get to the human side of the story . . . it’s scary.  The science on how these genetic mutations effect us and how to treat them is BRAND NEW.  Many doctors know nothing about this topic.  The information I read about MTHFR changes literally every day.  There does seem to be more and better information all the time, but how can I interpret all that data, when my doctors don’t even know what to do with it?  I can’t write about how to approach treating this issue for my readers, because the experts are still learning how to do it.  What’s more, it is a very delicate process with potentially serious side effects.

This genetic issue is probably at the root of my infertility.  It is probably why having multiple vaccines before I moved to Africa, lead to a complete autoimmune collapse for me.  It was playing a role when I was in the depths of daily panic attacks.  Just like all of you, I find myself overwhelmed with how to approach it and where to turn for accurate help.

And all of that is okay . . . here’s why:  I can’t control everything.  Ultimately, my journey with MTHFR has been primarily about accepting the things I cannot change.  You know the serenity prayer, the one they use in Alcoholics Anonymous?  Sometimes I think that is a good prayer for those of us on the healing path.  I have come a long, long way and I can do my best to go further every day, but it is okay if there are parts of this journey that involve traveling at a pace I didn’t set for myself.

You see, choosing to accept that this is scary, that there is simply too much information for me to realistically synthesize at this time, that the experts are still trying to become expert on this topic, that this genetic defect is probably at the root of many health problems for me, and may very well cause more serious ones . . .  accepting all that has given me alot of energy for courage.  “Having the courage to change the things I can” is the other important line of that AA prayer.  If I am not bogged down about the things I can’t handle, I have alot more courage to tackle the things I CAN handle.

This is what I am doing with MTHFR:

1)  I spend a small (small is the key there) amount of time every month learning the latest info on it and listening to the leading doctors trying to treat it.  At the very least, this info lets me be a good advocate for myself when it comes to discussing this topic with my doctors.  Being a strong advocate for my own health is a VERY high priority for me.

2)  I have begun a basic treatment method.  I chose one that I am able to understand and that was recommended by my doctor, based on her understanding.  This involves taking activated B vitamins.

3)  I continue to focus on a very clean diet and a lifestyle that avoids, as much as possible, unnecessary exposure to things my body struggles to process (too much stress, too many chemicals in my environment, etc) due to my MTHFR defect.

What do you think readers?  Do you have the MTHFR defect?  MTHFR or not, is there a portion of your health journey where applying the principles of serenity has resulted in greater empowerment for you?

About Angie Alt

Angie Alt is part of the blogging duo behind Autoimmune Wellness. She helps others take charge of their health the same way she took charge of her own after suffering with Celiac and other autoimmune diseases; one creative, nutritious meal at a time. Her special focus is on mixing “data with soul” by looking at the honest heart of the autoimmune journey (which sometimes includes curse words). She’s also a world traveler who has been medically evacuated from two foreign countries. Strategizing worst-case scenarios is now something of a hobby. She is a Certified Health Coach through the Institute for Integrative Nutrition and author of The Alternative Autoimmune Cookbook: Eating for All Phases of the Paleo Autoimmune Protocol. You can also find her on Instagram.


  • […] Alt • January 6, 2014 • 20 Comments MTHFR? MTWhat? can now be found HERE, at Autoimmune Paleo, where I and my blog partner, Mickey Trescott, now blog.  Thanks for […]

    • Lindsay H says

      First off, thank you both for this lovely web site and I LOVE YOUR WELLNESS HANDBOOK – I DEVOURED IT!! I’m curious if you can share any research articles about why the C677T mutation”is very serious?” I’d also love to know who you ladies think the leading doctors are on this subject? I’ve found quite a few online, but I’m researching bc I found out I have both MTHFR gene mutation and the MTRR, CBS, MAO A and a few others. If you would be willing to share more information on your findings I’m sure your readers would eat it up!! Thank You, Lindsay

      • Angie Alt says

        Thanks for reading! We’re glad you love the book & the site. First, Mickey also has some very informative MTHFR articles here on the blog, so be sure to look at them. Additionally, w/ regards to C677T, this article does a great job explaining why this mutation can have such a major impact:

        Finally, we would consider the leading doctor on this subject to be Dr. Ben Lynch. You can find him online.

      • Mickey Trescott says

        Hi Lindsay! I believe Dr. Ben Lynch at has the most well researched information around. His site will have links to many studies. C677T has just been studied the most and there is the most concrete evidence that particular mutation produces clinical significance for folks (you can go to and enter C677T to search yourself if you’d like!). Hope it helps!

  • Mel says

    Do you have any information you could provide or articles/reading you can suggest regarding MTHFR and the link to Alopecia Areata?

    • Mickey Trescott says

      Mel, I don’t, other than Dr. Lynch’s website Wishing you luck!

  • Jenn says

    Thanks for the info… I just got tested and am positive for the A1298C mutation. I also received an extensive allergy test. I’ve not tested positive for night shades, egg, nuts, etc… all the AIP no-no’s. Do you think its still wise to follow the AIP protocol if you have the MTHFR gene but not known allergies to these foods?

  • […] about ancestral diet, sleep, stress, epigenetics, the gut-brain connection, evolutionary biology, gene mutations, etc., in our efforts to heal. We read books, listen to podcasts, subscribe to Paleo Magazine, […]

  • Lr says

    I’m surprised you didn’t talk more about the methylated form of folate which goes by a few names, one of which is l-methylfolate. Based upon some other websites I’ve read this kind of folate can be used and absobed by people who have 677 and 1298 gene mutation. Thanks for writing this autoimmune-paleo site.

  • Nancy Steinbrecher says

    My daughter has MTHFR mutation.

  • Angel says

    I became violently ill two years ago and was bedridden for six months. I had what looked like an anaphylactic reaction up to 20 times per day, but steroids and antihistamines wouldn’t touch it. I spent a month at Mayo with no answers. I found the C677TT mutation on my own.

    When I got sick, I told every doctor about our weird family history: rampant Spina bifida, other birth defects, heart disease, miscarriage, asthma, pernicious anemia, severe allergies, endometriosis, and early stroke (my grandmother was 37 when she suffered a cerebral hemhorrage).
    Their eyes would glaze over and they’d ask if I’d already been treated for hypochondria. Doctors now suspect I have Ehlers-Danlos as well as MTHFR deficiency.

    The point of my babbling is that some people, doctors included, don’t take MTHFR mutation seriously. It seems to be a spectrum, like many other conditions, and some of us have severe cases that can be life-threatening. If I hadn’t done the research myself, I would not be well today. No one thought to look for a genetic mutation. I spent tens of thousands of dollars looking for an answer, and all I needed was a 99 dollar DNA test.

    • Angie Alt says

      You are right Angel. For some, the mutation will express very seriously, for others, having the mutation does not mean it is being expressed or only expressed mildly. I’m so glad you found your answers.

    • Aleksia says

      Hi, what type of DNA test did you do and what other type of testing do you suggest?

      • Angie Alt says

        Aleksia, I did a single test, looking only for the MTHFR gene at a typical, mainstream lab. I did this, because to this point I am not interested in looking at all of my genes & I could have a portion paid by my insurance. If you are interested in learning about your MTHFR status, a relatively inexpensive & ease method is to consider testing through 23 & Me (you will get more than just the MTHFR info).

  • Cj says

    I have MTHFR mad wasn’t diagnosed until a health crisis and rapid weight loss with Lebe red blood cells after months of antibiotics and steroids to no avail . I now have three auto immune disorders and can’t get over 100 lbs . I have had to change my diet anddo supplements and prescription drugs . Issue is not all MTHFR respond well to Bvitsmins even dr Lynch will say so so the supplements protocol is very much individual for each person regardless of same mutation I I’ve found . I too spent hours and hours on lone researching when I got under minty pounds as I thought forsire I was dying .when main stream doctors do not take this seriously it is horrific results for people .everyday though I am now improving . It has taken two years of diligent effort .

    • Angie Alt says

      It’s good to hear you are finding the right answers CJ!

  • Sandra says

    First of all … Thank you both for the wealth of information you share and for sharing your journey with us.

    Part of my journey …

    Earlier this year, my 30 year old son started having TIAs and developed blood clots in his lungs. We found out that he has both the heterozygous MTHFR A1298C and Prothrombin G20210A mutations. He has had complex migraines for several years.

    A month ago I was diagnosed with Hashimoto’s Thyroiditis and also tested positive for both the heterozygous MTHFR A1298C and Prothrombin G20210A mutations….. After my diagnosis, my wonderful friend Amy purchased The Autoimmune Wellness Handbook and The Autoimmune Cookbook for me as a gift. Wow! Has this opened my eyes to some things. …. I had a complete hysterectomy 5 years ago. I had several fibroids in my uterus and through surgery found out I had severe endometriosis. I have 3 sisters. Each of them has had severe endometriosis and had to have hysterectomies as well. I had no clue this could be linked to autoimmune issues! One of my brothers has Membranous Glomerulonephritis and Celiac disease. My other brother has degenerative arthritis. I also have a niece who was diagnosed with Hashimoto’s Thyroiditis several years ago.

    Two days ago my youngest son was admitted to the hospital with diabetic ketoacidosis. We had no idea prior to this that he was diabetic. We don’t know for certain yet but the doctor thinks my son has type 1 diabetes. He has not yet been tested for the heterozygous MTHFR A1298C and Prothrombin G20210A mutations.

    All of that said … I am so thankful to have such a wonderful plethora of helpful and encouraging information at my fingertips. It helps make all the frightening health revelations this year has brought not to be quite so intimidating. I feel there is hope for true wellness.

    Thank you again. May God bless you for the help and encouragement you give to all of us.

  • Edie says

    Thank you for this article. I have a mthfr mutation as well. It has caused celiac, reynaud’s, ibd, inflammatory disease, and probably some other things. I take smarty pants vitamins which have b12 and folate in a pre methylized form. It’s nice to read from the perspective of someone else who deals with this stuff.

    • Angie Alt says

      I’m glad it helped to feel you cold relate Edie!

  • Sue's Blues says

    I was informed in 2008 that I had an MTHFR CT677 heterozygous mutation. This test was done by a Perinatologist that I was seeing when I was pregnant with my daughter, he , at the time was treating me for subcorionic bleeding and was curious to know why this was happening to an otherwise healthy individual and why even still that I had suffered so many miscarriages. Once this was confirmed, he explained that I was at an increased risk for: blood clotting issues, migraines, heavy menstral cycles, heart complications (which would not be good for my already diagnosed mitral valve prolapse), susceptibility for frequent infections, autoimmune disorders, and cancer, oh, and I was introduced to a new word homocysteine. He explained to my Doctors that they should be very careful throughout my pregnancy, as there was great potential for me to lose my cervix due to total atrophy and hemorrhage, ultimately resulting in an emergency hysterectomy. My Primary Care doctors and OBGYN at the time decided to dismiss this “crazy doctor” out of hand and chose not to send me back to see him, “who authorized a DNA test anyways”.. Subsequently, I almost bled to death when my daughter was born, 7 months later, a month and a half premature, I lost 4 and half liters of blood due to my uterus and cervix muscles atrophying and a giant hemorrhage, There in the labor and delivery room, I coded twice, and lost my ability to have anymore children due to a total emergency hysterectomy. In the years since, doctors continue to be baffled by this “diagnosis” and have no idea what to do with it, they argue about the validity of it, the severity of it, and what exactly it is and what it puts me at risk for. I have even been told that because it is CT677 and it is “only” heterozygous, that it has virtually no risk to me, that perhaps I should just avoid folic acid. I have since developed an unknown origin Myopathy (muslce weakness) condition (they thought Polymyositis, but cannot agree) that has horrible flare ups with abnormal lobulated muscle fascicles presenting in my muscle biopsies , which they claim are, “normalish” chronically elevated CPK levels, myopathy and neuropathy on EMG studies, and the occasional full on muscle atrophy of any number of muscle groups for extended periods of time requiring near bed rest and unhealthy amounts of oral steroids. I have lattice degeneration in both of my eyes, an unknown (for lack of trying, since they claim it isnt really concerning) restrictive thoracic disorder with the main symptom being shortness of breath on physical exertion and diaphragm weakness (robbing me of my once enjoyable hobby of singing). Fast forward over several years from suffering with that and enter a weight gain of 90 pounds in 3 years and constant migraines, I am told to exercise more and quit over-eating, two things about my health that I never neglected or abused. Finally a doctor noticed a lump in my throat, confirmed Goiter with nodules in my thyroid, had blood work done for automimmune antibodies wouldn’t you know it, 2,900 UL of TPO, Diagnosed Hashimoto’s thyroiditis that had already progressed to full on Hypothyroidism. SO now on top of the muscle condition, my body will forever try and destroy my own thyroid. My body is plagued with inflammation, and still doctors struggle to make the connection between my gene mutation and the horrific medical conditions I have had to deal with. I just had to have my gallbladder removed because it quite working altogether, the HIDA scan was 4%. I appreciate this blog more than you could ever know, I feel less lonely, less afraid , knowing that it isn’t just “my” doctors who are lost, it is the entire medical community as a whole, and that isn’t to say that I have something against Doctors or that there is some kind of deliberate attempt to ignore the problem. I am simply saying that it is reassuring to know that there wasn’t some big cure laying around somewhere that for whatever reason no one was sharing with me, and I am forever grateful for any hope that I receive and not only does knowing I haven’t missed out on some miracle cure uplifting, that I am not alone, and that there are others out there willing to blog about it, search for answers and share what they know, that gives me hope. More importantly, that there are others out there that agree that you don’t have to be a doctor to advocate for yourself. Thank you and , sorry for all the technical jargon, I am learning new things everyday…..because let’s face it, knowledge is power, power is courage, and courage is greatly needed to make it though.

  • rose Hill says

    Hi been on a research mission as i have been diagnosed with MTHFR c677t after years of on going health issues with iron heavy painful!! Periods resulting in altered sensation in arms n legs for the past nearly 2 years. Its nice to find others talking about it. i have 1 doctor who believes this is impacting me and has me on b12 shots all other say its not serious.

  • Bari says

    I just was tested and found out that I have homozygous mutation of c677tt gene. Still don’t quite get all this but I have so many health issues and have suffered from depression and anxiety which now I find out could be linked. Nobody understands any of this it seems. My own doctor doesn’t know. It was a psychiatrist who ordered the test! Hoping you can help me understand. Thanks!!

    • Angie Alt says

      MTHFR & all genetic mutations in general are complex & emerging. Everyone is working hard to understand. I recommend you check out the work of Dr. Ben Lynch to help you dig deeper.

    • Abigail says

      I am homozygous for this as well and have Fatty liver and will be going in for a HIDA scan but I’m worried about the affect the radioactive drink will have on my health.

      • Angie Alt says

        Abigail, if your doctors think any risks associated w/ the drink are worthwhile to get important info from the tests, I would not worry too much about it. Instead I would focus on gentle detox afterwards.

  • Shannon says

    My chiropractor ordered test because I had spoken to him about concerns of infertility: Blood work came back as MTHFR C677t. He put me on supplements, Super Methyl-SP (k112) and L-5-MTHF. I haven’t been diagnosed with any of the listed health issues at this point. Although I do battle with anxiety/depression at times. I want a child so bad but am scared to death of birth defects or complications. Is this concerning enough that I should stop trying to get pregnant? Any thoughts or experiences would be appreciated.

    • Angie Alt says

      Shannon, to my knowledge there is no reason to believe that a homozygous C677t MTHFR mutation leads to birth defects. It can increase infertility, but it sounds like you & your doctor are addressing that w/ proper supplementation. I think if your ready for a child, you should enjoy the process & ask your obstetrician if there are any additional concerns w/ the MTHFR mutation.

      • Lindsay Meyer says

        Hi there! I JUST found out I’m homozygous c677t, only having the test done out of curiosity really. But, I have 6 kids ranging in age from 4 to 16. Obviously I haven’t had any fertility issues, lol! And no birth defects either. So I guess it just depends on the person perhaps? Anyway, just wanted to say apparently it is totally possible to have normal healthy pregnancies and babies even with an mthfr variant. Good luck!

        • Angie Alt says

          Yes, exactly Lindsay! Just having the mutation doesn’t necessarily mean it is being expressed. It’s one reason to be cautious in treating it & typically involve a practitioner for guidance. You can end up doing a lot of harm treating something that doesn’t need treatment.

  • Natacha Salazar says

    What did you do to keep your normal life?
    My daughter is heterozygous c677t and she is so bad and I really don’t know what to do because they are people, like Dr. Lynch that make millions selling there products and i really don’t know is I can trust them

  • Christina Warren says

    I was just diagnosed with one of each mutation. I just got hit with a million health issues and my most recent was walking pneumonia which started in January and I can’t get rid of the wet cough and all my doctors can do is give me more steroids. I have changed my diet, I am on a million different supplements and I am begining to realize that these issues are deeply related to the MTHFR. Your website is the first that I came to and appreciate all the information you have posted. It’s nice to hear a human response instead of medical jargon. There is comfort in knowing I am not crazy and that there are some answers. My younger son is displaying the same symptoms I did as a teen and I know that my health is an exact reflection of my mothers and my grandmothers.
    Thank you for being the start of my journey with this and for being brave enough to share your story.

    • Angie Alt says

      No problem Christina! Wishing you wellness on your journey.

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