Genetic Mutation MTHFR (5,10-methylenetetrahydrofolate reductase (NADPH) and Down Syndrome

FTC Disclosure: This post may include links which allow me to earn a small commission on the item(s) purchased. This has no effect on your price. GAPS Diet Journey is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for us to earn fees by linking to and affiliated sites.

Say what?!

I know little about this genetic mutation except the two blog posts (MTHFR Part 1 and MTHFR Part 2) I have read over at Loving Our Guts.

I'm writing on my blog about it because it appears that I may have some of the conditions caused by this genetic mutation. The most interesting one of all is that this genetic mutation can cause a woman to bear a child with Down Syndrome. As you may or may not know, my oldest son has Down Syndrome. He was born when I was only 23 years old, and it has always been somewhat of a mystery to me why I had him at such a young age. It is much more common for a child with Down Syndrome to be born to a much older woman, at least in her forties. More curiously, my sister two years younger than me also delivered a child with Down Syndrome, her first, and she was only 18 years of age.

Her child was born first, and her husband at the time was in the Army. She said extensive testing was done to find why her daughter had Down Syndrome and they discovered that her husband had two cousins with Down Syndrome, so at the time we all breathed a sigh of relief and assumed it was “his” side of the family. Even though my niece has Trisomy-21 which is supposed to be random and not genetic at all (my son also has Trisomy-21, in simple terms this means that he has three of the 21st chromosome. At the time of conception, either the sperm or the egg gave both choromosome, instead of only one, hence the third chromosome in every cell of my son's body. And also why people with Down Syndrome tend to have similar features.)

When I was pregnant with my son the doctor was rather callous and stated (once learning that my niece had Down Syndrome and also that my father-in-law and sister-in-law were born with Tetralogy of Fallot) that we would do an amniocentesis at twenty weeks to determine whether I should continue with the pregnancy or not.

I was appalled. I told him that I would NOT consider an abortion because I was a Christian and I would never kill my baby for any reason. After I told him this, he said, “Fine. Then we'll just pretend that this is a normal, happy pregnancy.”

I transferred to a different doctor (who wasn't much better but at least he wasn't suggesting that I make a decision to abort my child).

When my son was born we did not know, we did not even suspect that he had Down Syndrome. He did not have the typical “look” that one expects when meeting a person with Down Syndrome. The only thing that tipped me off that something was not right is that he did not smile until he was about ten weeks old. This is quite late for an infant. When my son was twelve weeks old the pediatrician suggested we test for Down Syndrome. He said he had suspected it at his birth, but he didn't want to alarm anyone until he was more certain. He pointed out the Simian Crease, the big space between his big toe and next toe, the smaller than normal pinky finger which had a bend to it. When I called my sister whose daughter had Down Syndrome, she told me to not let the doctor run the tests because he was just trying to make money off of us. You see my sister had seen pictures of my son and she did not detect that he had Down Syndrome. But after the doctor gave me a printout with the typical characteristics I was pretty sure he was correct. And he was.

It was real hard on me and my husband. The world went black for about three days. We were told it was truly as if our son had died. For the child we had grown to love would be “more normal than not” but he would not achieve the life we may have already imagined and anticipated. He would still run and play, talk and laugh, but he would be limited.

At any rate, I have always appreciated that his condition was concealed from us for three months. You see as a youngster growing up our pastor had instilled a fear into us of people with Down Syndrome. “Mongoloids” she called them. “Serpent seed (i.e. A child of Satan)”. My siblings and I used to call each other stupid retarded idiots. Mongoloid idiots. And I was always afraid of people with Down Syndrome. What a blessing that my child's condition was not revealed at his birth or it could have affected my bonding with him. I loved him so much I never knew it was possible to love another human being so much.

I didn't start out this post to tell this story, but maybe I needed to tell it.

Let me switch gears… I started this post to tell you about this genetic mutation MTHFR. Actually, I want you to go over to Patty's blog and read about it, because she has a lot more information than I can give you on it.

I am going to have blood drawn tomorrow and one of the tests I have asked for is to rule out or confirm this genetic condition. If I find that I have it, maybe that is why my son has Down Syndrome. Not because, like was once suggested by my sister's granny midwife – that a curse had been placed on our blood line that all the first born children would have Down Syndrome. Of course, this granny midwife supposedly prayed to lift the curse but interestingly enough there were no more children born with Down Syndrome, and thirteen more children born to myself and siblings. I don't believe in this kind of superstitious nonsense any longer.

Okay, so far of the conditions I have seen that could be caused by MTHFR, here are the ones I have:

  • Child with Down Syndrome
  • Tongue Tie
  • Depression, Anxiety
  • Chronic Fatigue (no diagnosis but symptoms)
  • Possible Suspect Primary Closed Angle Glaucoma (I have not made my appointment to rule this out yet but need to get it done!)

Conditions in other members of my family, my husband or his family

  • IBS
  • Dementia
  • Alzheimers
  • Cancer
  • Depression, Anxiety
  • Schizophrenia
  • Addictions: smoking, drugs, alcohol
  • Miscarriages
  • Depression in Post Menopausal women
  • Chemical Sensitivity
  • Stroke
  • Bipolar Disorder
  • Tetralogy of Fallot

There are 57 listed  at

You can pay for your own test, it costs $150.

If you have Labcorp and your doctor will order the tests, here is the numbers you want to request:

  • 511238 Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis
  • Homocystine 095638 Amino Acid Profile, Quantitative, Plasma

A few points that jumped out at me from Patty's post that I want to highlight (italics are direct quotes from Patty):

  • The person with MTHFR has trouble converting folic acid, one of the B vitamins, into methylfolate
  • People with MTHFR need certain vitamins, Patty lists them in the 2nd post.
  • You've gotten a test for folate and B12 and the results are at the high end of the range (that's me!) but you still have fatigue. “However, that blood test looks for all forms of those vitamins and measures them together. You might have very high levels of the inactive forms and virtually none of the active methyl forms. So while you have lots in your blood your tissues are starving because the inactive form can't get in.”
  • “Glutathione is created in your liver and one very important thing that it does is to help to detoxify the body from heavy metals. Interestingly enough mercury breaks the next step in the metabolic pathway after the one that MTHFR break. If you are exposed to mercury and don't make enough glutathione then your body can't get the mercury out. That mercury impairs the process that should make more glutathione which is necessary to detoxify the body of the mercury…. It's a vicious cycle. Amalgam fillings and vaccines are two ways that many of us have been exposed to mercury over the years. If you don't have enough glutathione in your body that mercury that you were exposed to many years ago is still there. It can't get out.”
  • Don't take any vitamins that contain folic acid or regular B12. Avoid foods fortified with folic acid.
  • Duck liver is the best source of folate. 738mg per serving.
  • “Those of us with MTHFR mutations especially need methyl folate.”
  • It's really, really important to detox, epsom salt baths are good and help with magnesium.
  • “One important key to this is go slow with the supplements, add one at a time.”
  • Take B-vitamins in the morning to help with energy.

Please go over and read through both posts for more comprehensive information. Thank you Patty for sharing your research with us!

GAPS DIET JOURNEY is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to AMAZON.COM. GAPS DIET JOURNEY is an affiliate for several companies and may be compensated through advertising and marketing channels. Therefore, this post may contain affiliate links.

17 thoughts on “Genetic Mutation MTHFR (5,10-methylenetetrahydrofolate reductase (NADPH) and Down Syndrome

  1. It is great you have found the root cause. And yes to avoiding foods fortified with synthetic b vitamins. They can cause a methyl jam and you need your active b’s to help in the production of glutathione. Glutathione removes toxins and metals from the body. People with MTHFR have trouble maintaining adequate glutathione levels due to their active b deficiency. It is wise to try to produce your own glutathione with nutrition and the proper supplementation. I have found that taking oral glutathione can actually put us in a methyl trap. Some people with this enzyme deficiency do have to have IV glutathione. It is good to know your mutations and if you are homozygous, heterozygous or compound heterozygous. I have a website I have just started. In the next few months, I will be adding a list of md’s, nd’s and nutritionists that know about MTHFR and how to treat it. I also have a facebook page called mthfr support. I do have links on my website to many lectures on the subject of methylation and MTHFR. And Dr. Ben Lynch at is great. He is still learning and helping many people who couldn’t find help locally.

  2. Starlene, you should conclude how it has been to raise your son. I’m sure you love him so. I love people with Down Syndrome. That is why I went into Special Education was because of two boys in high school that I just loved. People with Down Syndrome are as stubborn as I’ll get out, but so, so sweet. I’m sure its different being their mother. It is probably very frustrating, and life does take a different route because of it, I’m sure. But i would say just the opposite of a child of satan, I always felt like my friends (and students) with Down Syndrome were angels.

  3. @Starlene, How was your homocystine level?

    Do not take the biotics one. It has regular folic acid and with a mthfr mutation that is the biggest impairment, the ability to transform folic acid into methylfolate, the active form. Products like that one irritate me. Why do the active form of only some of the b-vitamins and not others? (the b12 is also in the inactive form btw). As I said in the comments on my blog, those will fill up your receptors and block the action of the active forms. It is like having high rt3. It doesn’t matter how much t3 your take if you level of rt3 stays high you won’t get better. And for some reason the body actually (according to some) preferentially absorbs folic acid over methylfolate. I hope he will let you take that one back. As for the methylcobalamin, I don’t know what nuggets are. Do you swallow these or are they like a losenge? If you swallow them return them too. If you absorb it in your mouth you can try them. Amazon didn’t list the ingredients, is it clean? We have been using the mb12 shots but I want to try the nasal spray.

  4. @PattyLA, UGH!! How annoying!! This is the THIRD time I’ve been burned buying products from this naturopath’s office that I couldn’t use. He seemed to be up on the types of B Vitamins that could be taken, so I decided to trust his recommendation. The B12 is a tiny little pink lozenge that melts in the mouth. The other ingredients are: Mannitol, Cellulose (Plant origin), and contains less than 2% Croscarmellose, Natural Cherry Flavor, Silica, Vegetable Magnesium Stearate, Vegetable Stearic Acid. Free of: artificial color, artificial flavor, artificial sweetener, preservatives, sugar, starch, milk, lactose, soy, gluten, wheat, yeast, fish, sodium. They do not take products back, even if you haven’t opened them. The two bottles of Bio-3B-G cost $37.00. More money I don’t have down the drain. Great. I think I am writing a letter to the office to complain.

    My homocystine, Pl is 0.5 and the range is 0.0 to 2.0.

    The Biotics bottle says to take 3 tablets daily. He’s got me taking 18 tablets daily for two weeks. I took them this morning and at noon. Guess I won’t be taking anymore.

    I knew it was too good to be true.

  5. @Starlene, It looks great at first but I just don’t know why they went with folic acid instead of the active form.

    The b12 is ok. That form (oral/sublingual) is the cheapest abut also the hardest to absorb. Be sure to hold it under your tongue for a long time. Swallowing pills is useless for most people.

    Your homocystine is good. You might want to get your blood ammonia tested it can be elevated when homocysteine is low. Also read this.

  6. @PattyLA, so what is 12 of these pills going to do to me?

    I was wondering how long it was going to take me to start feeling great, like the naturopath said he has experienced with other people.

    Here’s something weird – all my life, every time I take B Vitamins my urine is bright yellow. So today, I take 12 of these pills (since he told me to take EIGHTEEN which is THREE TIMES the recommendation on the bottle) and my urine is pale.

    Before you commented, I was thinking, “Wow, I guess all my life I’ve been dumping those other B Vitamins, I must really need this much and no bright yellow urine!” Patty, I did want to thank you for pointing this out to me.

  7. @Sterling Hill, thank you for your comment. I’m sorry it has taken me such a long time to respond! I finally have the results of my DNA testing back, and I have two copies of C677T which I guess means I’m Homozygous C677T. Is that correct? Thank you for the information you have shared in this comment, there is a ton of information just in these few sentences!! I have linked up your Facebook page, “liked” you there and have linked your website as well as Dr. Lynch’s. Thanks again. Best regards, Starlene

  8. Starlene, knowing you are homozygous 677, you will have to keep an eye on your homocysteine. I try to keep mine between a 6-8. Right now I am at a 6.5 which is ideal. Since I have kept myself in this range, I haven’t had any signs of cardiovascular problems or pulmonary embolisms. It is manageable. For me, I find avoiding glutens, foods fortified with synthetic b vitamins and taking the active b’s along with TMG is working great. Being homozygous 677, your children will at least have one SNP of 677. I was just speaking to a friend of mine who is homozygous 677 and so is her husband. All of their children are as well. She said Thorne just came out with a men’s multi that has the active b’s in it that she is going to give to her grown sons. We were both saying that if we start our children on the proper supplementation early enough, they will never have to go thru what we are facing. I’m still learning lots about this and am sharing everything I learn so people do not have to endure what I have endured. Another good website is Heal Thyself. She is a nutritionist who knows quite a bit about MTHFR and nutrition. Any time you have a question ask away and if I can’t answer it I will find someone who will.

  9. @Sterling Hill, the range on my Amino Acid profile for my homocysteine is 0.0 – 2.0 and the units are umol/L. My result was 0.5. What are your units, and what is your range? Also, I do have some questions about supplements. Would you rather I ask on your MTHFR support FB page so that others can learn from our conversation?

    I am very sad that my youngest son, who is 22, will not listen to me at all when it comes to anything related to diet. He wants to eat anything and everything. Of course, this is certainly due to the fact that from the time he was about 5 years old to 20 years old I always told him to never diet because diets don’t work. And I always told him whenever I tried to restrict certain foods from my diet I would have terrible cravings. That was before I found the GAPS diet, and the Leptin Reset. But now he thinks I’ve up and joined some weird diet cult.

    I’ve finally persuaded my husband that our oldest son (the one with Down Syndrome) has to be off gluten (that took almost two years), but I think he still gets some from the “illegals” that the younger son brings into the house. Should I ask my other questions on your FB page? Thanks for your help with all this.

  10. Yes it would be good to ask questions on my facebook mthfr support page. My amino acids are in good range as well. The geneticist checked them. Obviously you are following a healthy dietary protocol. I am headed to a meeting with the CEO of Smoothie King but will be home later this evening to answer any questions. And I know all too well about grown children not listening. It has taken one of my sons to see me have 13 pulmonary embolisms, my mother having a heart attack and stroke and for him to start having heart palpitations to follow an MTHFR protocol. The other one is still in denial. I feel your frustration. We don’t want to see anything bad happen to our children.

  11. @Sterling Hill, okay, I will do that. I wrote to Dr. Ben Lynch to ask for research to share with my naturopath about the B vitamins he is giving to his patients and Dr. Ben asked me to put the question on his forums and he would answer there. So I will ask on your FB page. So my homocysteine being in the low quarter of the range is a good thing, I’m assuming? I have been on the GAPS Diet for over two years now – no gluten, grains, sugar, processed foods, MSG, etc. etc. Unfortunately I cannot afford organic/grass fed everything, but try my best to eat “real” food. For the last three months I’ve been doing Dr. Jack Kruse’s Leptin Reset. So I am trying to eat healthy! I also avoid dairy products, except for butter. Plenty of healthy fats, meat, vegetables. I eat fruit and honey and nuts occasionally. I guess I am lucky that my oldest as Down Syndrome because I can control his diet. But yes it is frustrating that my youngest won’t listen to me. I’m glad your one son is finally listening, and hope the other one comes around. Thank you again for your help.

  12. Just out of curiosity, why are you not doing the mb12 injections? There is a lot of research data that oral forms of b12 are ineffective. And by the way, my daughter is on the autism spectrum. MTHFR mutation is rampant in the autism community. I had getting tested on our “to do” list for at least 4 years, but due to a number of other things in our lives, it kept getting pushed onto the back burner. GAPS Diet helped push towards finally getting this test done, as the GAPS practitioner we work with is also a Nurse Practitioner. So we were able to see her for GAPS issues and also get the orders to get this test done. With my issues, I just went ahead and got tested the same time as my daughter. I am heterozygous for MTHFR, while my daughter is homozygous. Due to her being homozygous, I did also contact my husband’s family to let them know. Both of her grandparents on his side went to their doctors to get tested and both doctors completely blew them off! They got defensive and wouldn’t order the test! They cited it being “too expensive” and “unnecessary” since there is nothing to be done about it anyhow. On my side of the family, nobody was even interested in getting tested. And even my husband sees no need to do any kind of protocol because “he’s healthy”, even though our daughter has the double sided mutation, one from each of us.

  13. Hi Nancy, I never really thought about doing the injections. I suspect that for most people the oral forms of B12 don’t work well since most people have gut dysbiosis, especially if they are taking the inactive forms. I know we have to be careful to take only the active forms. Does your daughter have the C677T? I am homozygous for that one. So I know my mom and my dad have at least one piece since I have two. How frustrating that the grandparents went to be tested but were unable to get the test done! Have you heard of that place 23 and me? They do the MTHFR testing plus a whole bunch more for $99. Maybe the grandparents would pay for testing out of pocket. Did your husband get tested? At least you know about the mutations and can be on the alert for any of the conditions if they come down the road for your husband and make him aware of why or how to manage the condition. My sister went and got tested and she has only one C677T. She also had two of her daughters tested too and they each have one. All of this fascinates me.

  14. Yes, our mutation is with the C677T.

    I have the 23andme as a “to do” in the future. I hadn’t mentioned it to my in laws yet, since it’s obvious that their physicians are clueless. It won’t do them much good without having a knowledgeable physician on how to work with the mutation. My FIL’s physician got very defensive. And my MIL’s physician told her that since “you can’t do anything about it, why bother”. My husband doesn’t feel the need to test, even though it might be helpful to know if he is homozygous or heterozygous. He had no desire to do the mb12 injections or any of the other supplements. He feels like he is perfectly fine. There is a lot of research about the oral mb12 being completely ineffective, and the only effective form being the subcutaneous injections.

Leave a Reply

Your email address will not be published.