What the Heck is MTHFR Deficiency?

Mother and Baby

The first item on my report was … that I am a carrier for a genetic condition. Whoa! Really? The next question was, “What the heck is MTHFR Deficiency?”

I dug around a bit online and found out this is, shall we say, not a bit deal. One of my first steps is usually to try to find out other names for whatever it is I want to know. Another name for this is Methylenetetrahydrofolate Reductase Deficiency. Ie. Methylene-Tetra-Hydro-Folate Reductase Deficiency. It is also associated with Homocystinuria, and some people call them the same thing (but that seems to not quite accurate). The short version is this is really common, and even if you have it usually it isn’t very serious. Chances are you could have it and never know it.

They say 45% of white Americans will have at least one copy of the various genes that are associated with this. I have two copies, but of two different versions. That probably means that both my parents had one, but might not. I don’t know enough yet to make sure, and would have to get more information. I don’t know enough to understand if the two versions are on the same gene (a copy from each parent) or if they are involving multiple genes with related effects. If both my parents have it, then my other siblings probably all have at least one copy, which wouldn’t be a big deal if it was true. When it is most important to know about this is when you are having kids, and all my sibs have had all the kids they are going to. The public info about this points out that the main solution is to take vitamins with folic acid in them while pregnant, and since they recommend that for everyone anyway, you’re covered as long as you follow standard medical advice.

Here is the link, out of all the ones I looked at, which had the most helpful information for me.

Counsyl: MTHFR Deficiency: https://www.counsyl.com/diseases/mthfr-deficiency/

What was interesting for me was when I started looking at the Homocysteinemia aspect of it.

Pubmed Health: Homocystinuria: Cystathionine beta synthase deficiency: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002179/#adam_001199.disease.symptoms

I fit bits and pieces of the description. Obviously, I’m not intellectually disabled, but I do have:
– High arches of the feet
– Knock knees
– Long limbs
– Nearsightedness

These all could be attributed to other causes as well, but I found it curious. I have particularly strange feet (at least according to shoe salesmen), and limbs so long that none of the normal ergonomic guidelines apply to me. I am also mentally noting that they say to be particularly careful of blood clots for people with this condition. As far as we know, I don’t have the condition, but this is something I’ll want to share with my doc and discuss. I’ll also want to talk about this with my kids and siblings, even though it is not a reason to worry.

UPDATE Sept. 27, 2018:
This is one of the earliest posts about MTHFR Deficiency in this blog. People have expressed concern about how this post reflects the conflation of folic acid and methylfolate which is so common in healthcare environment, among doctors and patients, and which has such negative impacts for persons with MTHFR deficiency. Please see also some of these other posts on this topic:
* It’s … Complicated. (A.K.A. “MTHFR Deficiency, Sequel”)
* Folic Acid, More Complicated than You Might Think


17 thoughts on “What the Heck is MTHFR Deficiency?

  1. Pingback: Curiouser and Curioser (What We Don’t Know. Yet.) | PGen Participant

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  4. Hi, it was just discovered that I have MTHFR deficiency as well. When you say it is not serious, I must disagree. Although it was not serious for me, my MTHFR deficiency has been quite serious for two of my three children. One of the two genes in my DNA that break down folic acid does not work at all. Of course doctors prescribed me folic acid vitamins each time I was pregnant to prevent neural tube defects. I took the vitamins and when my blood was checked, the levels looked good. Problem though, although the folic acid was in my blood, my body never broke it down. I have low folate levels that are now confirmed. The correct amount of folic acid helps cells in your body that reproduce quickly, like when one is pregnant. Both my boys have very rare and often degenerative neural tube disorders- one has a Chiari Malformation the other idiopathic Syringomyelia. My youngest had brain surgery at 3 1/2 years old. So although you say 42% of white Americans are carriers and I have read that only 10% of those people have symptoms/problems, please don’t say “not a big deal.”

    • Hi, JHG, I’ve come to agree with you on this. My initial post on this was based on a quick review of the most highly recommended resources on this from the US government. Further research in the professional medical literature and personal “n=1” experiments on my own health have led me to believe this is indeed an important emerging area. You can track more of my thoughts and experiences on MTHFR here: https://pgenpt.wordpress.com/tag/mthfr/ – Patricia

      • Dear Patricia, I am so sorry I was hard on you in my first reply. I only saw your subsequent replies after posting my first response. Thanks for giving me the rest of your information for you blog. And, once again, I am sorry for not reading further before posting! JHG

      • Not a problem, JHG! I figure the more folks talking about this the more people will learn. It is important for people to hear from more than one person — it gives more viewpoints and credibility. Thank you for adding your voice!

  5. I found I had the mthfr deficiency when I had pulmonary embolii, which I amazingly lived through, a day after the birth of my 6th child. Subsequent genetic testing that they asked me to do after this event showed the deficiency. I was told to always take folic acid for the rest of my life. They also told me to not have any more children (which I did not comply with I did have a 7th child) and I was considered high risk because of the pulmonary embolii. My 6th child (the one I had pulmonary embolii with) was diagnosed with Celiac Disease last year and two years prior to that Type 1 Diabetes (as well as a severe peanut allergy & latex allergy).

    • Hi, Deborah, sounds like you and your family have been very lucky!

      There is another case sort of like yours in the medical literature:

      I’d like to mention one point, though. You said you are taking folic acid. What I’ve been reading suggests that people with MTHFR deficiency should NOT take folic acid because their bodies are unable to process it properly, and then the build up of folic acid can lead to other problems, some of them pretty severe. Those sources recommended instead to take methylfolate for the folic acid and methylcobalamin for the B12.

      “However, some individuals have a genetic deficiency in the methylene tetrahydrofolate reductase (MTHFR) gene that limits conversion of folic acid to its biologically active form, L-methylfolate.”
      Lizer MH, Bogdan RL, Kidd RS. Comparison of the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in depressed versus nondepressed patients.J Psychiatr Pract. 2011 Nov;17(6):404-9. doi: 10.1097/01.pra.0000407963.26981.a6. http://www-ncbi-nlm-nih-gov/pubmed/22108397

      On the other hand, the recommendations on this are not consistent in the medical literature. The American Heart Association patient page for MTHFR deficiency:

      does recommend folic acid and does not mention the problem of the methylfolate trap or the problem of processing folic acid. http://circ.ahajournals.org/content/111/19/e289/T3.expansion.html

      Just mentioning this as something to consider. For me, when I switched from folic acid supplementation to gluten free methylfolate, it made a big difference in how I felt.

      Good luck!

  6. I’m a naturopath who has specialized for years in working with unusual and difficult cases. Doctors tend to refer out the patients they consider to be “hypochondriacs” when in reality this is often not the case. These are my patients, or have been in the past. I currently am semi-retired and researching and writing, and have only kept 10 of my most loyal clients, some of whom have keep me on retainer through their businesses, as a benefit but also a great write off. For years I partnered with a rheumatologist and we saw almost exclusively the first Chronic Fatigue, Fibromyalgia cases in women refusing to believe they were simply depressed and could miraculously be cured with Prozac or a hysterectomy and a good night’s sleep. What we discovered through quantitative brain mapping was that the vast majority were experiencing an abundance of frontal lobe slowing that was causing brain fog, memory loss, word-finding ability and mood swings. As we began asking sensitive questions, we discovered that the majority of them had silicone breast implants. We thought that was interesting, but weren’t sure if there was any correlation to their auto-immune symptoms. When we did hair analysis we discovered that many of them had other traits in common, such as heavy metal toxicity, severe deficiencies of minerals, in particular magnesium and potassium, lithium germanium and often zinc and manganese. They all had become sympathetic dominant with slowing of the thyroid and adrenal glands and they all had multiple mercury fillings and root canals. While these things may seem somewhat common and even incidental at first, we later realized these were all common among non-methylated individuals with MTHFR SNPs and often with CBS, VDR, MAO and COMT mutations in their gene tests.

    Over time, I was attending multiple seminars including the functional medicine and Defeat Autism Now conferences and found myself working with the patients of a local pediatrician who referred me the first cases of Autism when no one even knew what to call it. I was familiar with many neurological conditions including ADHD, Tourette’s Syndrome, Developmental Delays, Seizure disorders and head injuries and strokes, because I had a head injury clinic with another doctor in another county. But I’d never witnessed a case of autism either, and it was humbling, beyond words to suddenly see a child rocking and stimming or flapping, squealing and covering their ears without ever making eye contact or uttering a word. It didn’t take long to begin noticing correlations between our autistic children and many of the adults with auto-immune conditions.

    At first it was the similarities in their mineral patterns and metal toxicity, especially mercury. Then we saw similar stool analysis findings including low pancreatic enzymes, low secretory IgA antibodies, high yeast and bacterial loads, sensitivities to wheat and dairy, parasites and h.Pylori antigens. While most of us who cared enough to see these difficult cases for which we had few if any solutions to offer, the questions wouldn’t stop. We became driven to research and find solutions, answers, and interventions that might offer some relief, and prayed we would eventually discover what was causing this sudden increase in strange neurological symptoms and emerging disorders.

    For those of us who kept searching, kept researching, kept praying and remained open to new ideas, insights came and miracles began to happen. One of those miracles was Dr. Amy Yasko, ND., PhD. She had been at Harvard and involved in the human genome project as a researcher; she also is a naturopathic doctor. I discovered Dr. Yasko when I was researching the sulfur-transferase enzymes and detox pathways as a possible common underlying problem for my own patients. I first heard her speak at a conference for autism and began following her work. I also was fortunate to have patients who were wiling to spend what cost over a thousand dollars back then to obtain the first genetic SNPs test.

    This led to my own obsession with methylation and my work today with nutrigenomics, which simply is another way of saying nutritional bypass. Once you understand how genes and genetic variants impact everything else, you can design ways to circumvent the damage naturally. I’m thrilled that doctors are now becoming more aware of the importance of testing the MTHFR A and C variants, but unfortunately this is only a crumb on the cake plate. Without comprehensive testing, and understanding of what the tests mean, how the genes and mutations play out, and what to do about it, we are only peering through a pinhole and trying grasp the significance of what’s on the other side of the door! Today anyone can get comprehensive gene testing done, for only $99! And it’s a big piece of the puzzle, but still it’s not enough. I was a widow at 49, pregnant with our fourth child when my very young, healthy and vital husband suddenly died of a massive heart attack. I’ve watched numerous members of my own family suffer needlessly with ADHD, addiction, anxiety and depression, strokes, diabetes, and cancer. All this could be prevented with the knowledge we have available but too few doctors have time to research and implement this new information into their practices. Furthermore, they blow it off, as either unproven and unsubstantiated, or “alternative” and therefore incidental, while millions more die or suffer taking drugs that will never work and may even do more damage and harm. For example, one of the genetic mutations can prevent a person from ever waking up from general anesthesia, while another interrupts the process that would allow methylation supplements like methionine, methyl-b12 and methylfolate to be effective, if it is not addressed first!

    There is SO much to discover and learn about all this, but for me, the greatest piece of my own puzzle is knowing how I can PREVENT or at least minimize my health risks and those of my family and clients with safe, effective nutritional supplements, ongoing detoxification and protection from chemicals and toxins and the power of my mind, and my attitudes!

    I highly recommend reading Amy Yasko’s books on nutrigenomics, but also Bruce Liptons newest research on the field of behavioral epigenetics. If you want to get tested, go to http://www.23andme.com and for $99 order their simple prick test. Then when that’s done, and you’ve done some reading, keep reading and researching! We are on the cusp of this information dawning on the medical communities. There are a few out there who are beginning to understand it and integrate it into their medical practice! I’m writing a book myself, and you can find out about my work with quantum biofeedback by going to my website at http://www.healthyoulifestyle.com
    Good luck and keep learning!

    • Thank you for your story. I agree that the medical profession is just at the very beginning of learning about these issues. I also have been telling people to get tested at 23andMe (but the spit test, not a prick test), and keep meaning to blog about it here. Yep, still trying to learn more about the methylation cycle. Glad to have found an excellent group of physicians at the University of Michigan who are interested in this area. Such a relief!

  7. just a few words to inform people how serious mthfr really is.today is the funeral of my 58 year old brother who has been suffering for a few years and had open heart surgery 3 years ago,when he was found on the floor not breathing they did cpr this sent blood clots all threw his body he was in a coma 2 days he kept trying to wake up but couldnt move as his body was dead so basically i want people to know YES it is very serious the dr.s said we all need to be tested as it came from our father my brothers daughter tested possitive.thankyou for your time may god bless you all!

    • Dear Trina, that sounds so sad. I am so sorry for your loss. The danger of MTHFR deficiency is that our bodies struggle to repair simple things that don’t create problems for most people. Then we find ourselves sick, and sicker, and struggling to get well. MTHFR is especially associated with cardiac conditions, so I am glad your family is aware of the risk and being checked for associated conditions. My best wishes to you and yours.

    • Trina,
      Thanks so much for sharing. I am sorry about your brother. It is so important that people push for testing and tell their doctors that MTHFR is not a “fad” diagnosis. The broken down folic acid vitamins have made a world of difference for me and my family. With me as a single and husband as a double, our children are a combination. Two of my children with birth defects. This is real and it is devastating that your brother died!!! Please take care.

      • We are trying to track in our family, also. My father is a double, like me, and my sister is a different double, meaning my mom had to be at least a single. And now 23andMe is shut down, and that’s all we can find out for now. So frustrating!

  8. Folic acid is dangerous for people with mthfr.

    Please look into this and then consider correcting as the whole premise of the disorder is the body’s inability to convert folic acid into methyl folate. Folic acid is toxic for people eithbrhis mutation.

    • Quite right, and this is discussed other places in this blog. Because the blog is reflecting my thoughts at a particular point in time and reflecting my learning process, I haven’t tried to go back to make edits. I will add a note reflecting the issue, however, since I share your concerns about people misunderstanding this when taken out of context.

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