Folic Acid Fortification, Increase in MTHFR and Rise in Autism?

If we sit back and evaluate the dates when folic acid fortification began and the fast rise of autism – do they correlate?

“In Spain, the prevalence of the MTHFR 677TT genotype has reportedly approximately doubled in the population since the introduction in 1982 of folic acid supplements for women in early pregnancy”…

“Folic acid fortification and supplement use might be “a genetic time bomb.” The first premise of this dramatic claim, that folic acid use increases the proportion of children born with the T allele of MTHFR, is as yet poorly documented and is clearly in urgent need of further study.

Studies of the MTHFR genotype frequencies in children before and after fortification should be carried out in countries planning fortification of food with folic acid. Thus, saving fetuses that have a genetic constitution that favors abortion or nonsurvival could lead to children being born with genotypes that favor increased disease during life””[1]

Folic acid fortification started heavily in 1992.[2]

Autism began to quickly rise in 1993.

In the early 1990s, autism diagnoses began to soar. In the 10 years between 1993 and 2003, the number of American schoolchildren with autism diagnoses increased by over 800%. In 2006, the CDC noted a slight decrease in the number of new cases diagnosed.[3]

 

Autism began to rise at the same time folic acid fortification began.

Is the rise of autism due to an increased survival rate of babies with MTHFR defects?

Countless children with autism have at least one bad allele of MTHFR – and many have two. Amy Yasko has yet to see any child with autism without a bad MTHFR allele. If you have – please correct me. [Amy Yasko's book]

Are we doing the right thing in ‘optimizing pregnancies’ when in the end, we are actually creating weakened genetics and having babies born with various genetic mutations that cause them to have serious medical conditions later in life – or early on.

Folic acid supplementation while pregnant is old news.

Women need to supplement with L-5-MTHF and Folinic acid – not folic acid.

This is a huge discussion and one that is very interesting to me – esp since my work with MTHFR over the last year.

Now – I’m going to throw a curve ball and make it more confusing.

If you look at current research on women supplementing with prenatals, the risk for having a child with autism goes down.[5]

Mothers of children with autism were less likely than those of typically developing children to report having taken prenatal vitamins during the 3 months before pregnancy or the first month of pregnancy (OR = 0.62 [95% confidence interval = 0.42-0.93]). Significant interaction effects were observed for maternal MTHFR 677 TT, CBS rs234715 GT + TT, and child COMT 472 AA genotypes, with greater risk for autism when mothers did not report taking prenatal vitamins periconceptionally (4.5 [1.4-14.6]; 2.6 [1.2-5.4]; and 7.2 [2.3-22.4], respectively). Greater risk was also observed for children whose mothers had other one-carbon metabolism pathway gene variants and reported no prenatal vitamin intake.

This is conflicting – or is it?

If pregnant woman supplement with a prenatal, risk for autism goes down? Yes.

Yet, folic acid fortification is causing an increased prevalence of MTHFR defects which may be a trigger for autism? Yes.

How can both be yes?

It is a balancing act and they are correlated.

If a woman supplements with a prenatal while pregnant, her methylation pathways are more likely to function. This allows the fetus to properly grow and also lessens the toxicity of the womb by reducing toxic burden.

Yet, this same prenatal that is fortified is also increasing the prevalence of MTHFR defects in the population because the baby now lives and is passed on the MTHFR defects.

UPDATE: December 4, 2012

I’ve found further support for this medical hypothesis. I am pleased to see that researchers thought of looking into this far before I even conceived of the idea….and I thought I was onto something :)

Let me share a very telling image with you which comes from the researchers’ medical hypothesis:

 

 

 

 

 

 

 

 

 

 

 


image source

What does the image above mean?
It means that if women did not supplement with increased levels of folic acid, they would miscarry due to undermethylation. The prevalence of MTHFR mutations would be less; the prevalence of undermethylated newborns would be less and thus, the prevalence of autistic children would be less.

WOW.

Really?

Yes.

Really.

Since women are now supplementing with increased levels of folic acid, they are more likely to carry to term and have improved methylation; however, once the infant is out of the enriched folic acid womb, it is on its own unless the parents supplement the infant with additional folate, b12 and other methylation support nutrients such as choline, b2 and b6.

If a women breastfeeds her infant – and continues to take her methylation support via prenatal and other nutrients, then the infant also has its methylation supported via the breast milk.

What happens when weaning occurs?

How much do we supplement the little one? How do we supplement? How do we measure and ensure proper neurological and immunological development?

These are questions we need answered from further research and clinical data.

I want to share with you exactly what a team of researchers stated about this medical hypothesis. In fact, the title of their theory is quite similar to what I named may May 2012 article: “Folic Acid Fortification, Increase in MTHFR and Rise in Autism?”

The title of their September 2008 paper: “Has enhanced folate status during pregnancy altered natural selection and possibly Autism prevalence? A closer look at a possible link.”

I cannot summarize their study better than they, so here is their conclusion:

It is hypothesized here that the enhancement of maternal folate status before and during pregnancy in the last 15 years has altered natural selection by increasing survival rates during pregnancy of infants possessing the MTHFR C677T polymorphism, via reduction in hyperhomocysteinemia associated with this genotype and thereby miscarriage rates. This also points directly to an increased rate of births of infants with higher postnatal requirements for folic acid needed for normal methylation during this critical neurodevelopmental period. If these numbers have increased then so have the absolute number of infants that after birth fail to maintain the higher folate status experienced in utero thus leading to an increased number of cases of developmental disorders such as Autism. Detection of the C677T polymorphism as well as other methionine cycle enzymes related to folate metabolism and methylation at birth as part of newborn screening programs could determine which newborns need be monitored and maintained on diets or supplements that ensure adequate folate status during this critical postnatal neurodevelopment period. source

 

If we prepare the man and woman nutritionally, spiritually and physically prior to getting pregnant, while pregnant and postpartum, then the likelihood for a healthy baby greatly increases.

But it doesn’t stop here.

Most doctors and woman stop supplementing postpartum and the newborn child is faced with chemicals, toxins and dozens of vaccinations.

We must not forget to encourage a healthy environment for the newborn child while at the same time identifying if methylation defects are present. If so, then address them. If we do this, then the rates of autism go down for the first time in history.

This is very empowering and something that all men and women need to embrace fully.

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77 Responses to “Folic Acid Fortification, Increase in MTHFR and Rise in Autism?”

  1. Sterling May 11, 2012 at 7:24 am # Reply

    Dr. Ben I do know someone who has a child with autism but does not have A1298C or C677T. She is now doing 23andme to see if her son has one of the other SNPs not commonly tested since he responds well to folate and methylcobalamin.
    Interesting findings.
    I for one know that I cannot have any foods fortified with artificial b’s because I feel extremely sluggish and get high blood pressure.
    Another thing in 1998 they started fortifying the food. By 1999 I had severe pancreatitis, intestinal bleeds and was severely anorexic with tachycardia. That is when I started avoiding foods that were processed and went on whole foods.

  2. Rach May 11, 2012 at 11:35 am # Reply

    Im a little confused by the above. So since fortification autism has increased. But then mothers that supplement have reduced rates of having autistic kids?

    • Dr Ben May 11, 2012 at 7:03 pm # Reply

      Rach –

      Great question and one that I should have elaborated on in the article – and will update it to do so.

      However, I will do a bit now.

      I have yet to read the full study I cited which states that women with methylation SNP’s who did not supplement with prenatals were more likely to have autistic kids. This makes sense and yet the studies which mention that folic acid fortification also increased autism risk.

      This means that is all about….BALANCE.

      My thoughts:
      - Methylation must be balanced.
      - Prenatals should contain only methylfolate and folinic acid – NOT folic acid
      - Women should optimize their health prior to getting pregnant- and men.
      - Children with methylation defects should be supplemented properly
      - Children with methylation defects should not receive vaccinations unless truly needed – and then must be preservative free

      This is a HUGE topic and requires a book to explain my thinking here clearly.

      In the meantime, this is something to chew on and realize that public health policy – which intending to be protective – can be truly detrimental to many of us.

      The motto: ‘Think before you act’ is a good one.

      I’ll be doing a podcast about this soon – so I can ramble on quickly without typing – to get some points across.

      • Rach May 11, 2012 at 10:44 pm # Reply

        That’s interesting dr Ben. Its an issue close to my heart at the moment as my 3 yo son has just been diagnosed with asd. Thankfully my 1.5 yo daughter seems to be fine. We have just taken him off gluten casein soy and corn and it’s the first time he’s slept through and his language has improved markedly.
        I have also only just found out that I am heterozygous c1677t MTHFR after testing for recurrent mc (4 in a row) . My fertility spec seems to think this is no big deal but luckily I see an acupuncturist that gets it and had put me on activated Bs. I’ve also gone GFCF- hopefully it will make a difference and a baby will stick.

        It’s interesting what you say about vaccines- I’ve just finished reading GOod news for the alphabet kids by Michael sichel md, and he talks about the sharp rise of autism when mass vaccinations started and a large spike seen when babies were given hep b vaccine at birth. But your point is maybe more kids are being born with methylation probs, MTHFR mutations and this is why they are not tolerating the vaccines. I will be interested to get my son tested for MTHFR when we see our biomed dr soon.

        Anyway keep up your good work and research- I am learning alot (my gp had never heard about MTHFR and wasn’t that interested when I was trying to explain what my mutation meant)

      • Mark March 31, 2013 at 9:55 pm # Reply

        I thought the study said that folic acid supplementation reduced the incidence of autism but not the milder form known as Asperger’s syndrome. This could imply that autism is simply someone with asperger’s who suffered in brain development because of folate deficiencies, resulting in extreme Autism.

        But there is also a vitamin d connection…

  3. kimberly May 11, 2012 at 12:44 pm # Reply

    Dr. Ben, A friend of mine so desperate to conceive her first child (shes over 40), was put on 10 mg of folic acid by her Naturopath! This Dr. I believe is treating all her female patients with this. I would love to see a webinar or presentation on this that I could send to my friend & her ND. I have discussed with her the dangers of folic acid, but not very well I think.

  4. babyfoodsteps May 11, 2012 at 2:22 pm # Reply

    I believe that you are on to something…. I believe there was a “perfect Storm” brewing in the 80′s and 90′s …food fortification, increased vaccine schedule (toxins) and increased use of acetaminophen in children (lowering glutathione).
    (http://babyfoodsteps.wordpress.com/2012/04/09/mitoxic-why-acetaminophen-may-not-be-good-for-any-of-us-especially-mitochondrial-disease-patients/)

    I also wonder if this is why so many autistic children respond to a Gluten free /Casein free diet- if you remove the milk you remove the blocking that milk can have on folate receptors and if you remove the wheat (for all intensive purposes in the US Grocery stores) you also remove synthetic folic acid fortification which autistic children may not be able to process due to MTHFR mutations.

  5. Gita May 14, 2012 at 7:58 am # Reply

    Dr.Lynch, you make some very good points about folic acid. I don’t believe the statement that children with autism all have at least one “bad” allele for MTHFR is correct. I’d refer you to the primary research for statistics on allele frequencies for MTHFR in autism – specifically, please see Table 3 in this paper which studied the allele frequencies for MTHFR in autistic childern as well as controls and also established a relationship between genotype and metabolic endophenotype – http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610366/?tool=pubmed

    • Dr Ben May 14, 2012 at 9:40 pm # Reply

      Gita –

      I am going by what clinicians and physicians are reporting – not research. I know that Amy Yasko and Garry Gordon are finding very high prevalence of MTHFR SNP’s in their autistic clients.

      There are studies which report difference frequencies of the SNP’s in autistic children. I think it may have to do with the patient population they are checking. Italians, Hispanics, Mexicans have very high rates of MTHFR SNP’s and it would be an interesting study to see how many autistic children there are in that population with MTHFR.

      You are right though – the word ‘all’ is one that is too strong and not very accurate in medicine as there are just too many factors at play.

      That is a great paper you cited and I appreciate it. I’ve been wanting to get some time so I can look further into the folate transport and B12 transport SNP’s – you saved me some time! :) Thank you!

      • Gita May 16, 2012 at 6:56 pm # Reply

        Dr.Lynch, let me say how much I appreciate your inviting corrections and then posting my comment and engaging in an open dialog. Very few people would have chosen to be that transparent, you’ve done a lot for my level of trust in physicians! While the claim of “all” is what I was commenting on, you make a very good point that there are variations by ethnicity in allele frequencies … there are very large ethnic populations that are under-tested in genetic terms, such as the South Asian population I belong to, which has rampant rates of heart disease. Incidentally, I tried to get my Mom in India tested for MTHFR mutations and she was told that MTHFR testing is not commercially available.

  6. Sally May 22, 2012 at 9:44 pm # Reply

    Dr. Ben, this research scares me as I am 31 weeks pregnant and diagnosed with 1 form of mthfr after 2 very early miscarriages. My doctor had me on prenatals, folguard, lovenox, and baby aspirin prior to conception and so far no complications. When I ask my doctors about the connection to autism they dismiss it and say I have nothing to worry about and I should vaccinate my baby like normal. I’m also confused because I asked why I’m on folguard and they said my homocystiene levels were normal and folguard would work fine. If my baby is now genetically predisposed for autism what steps should I be taking to prevent? I feel lost as my doctors dont seem to have a lot of background on mthfr yet they treated me for it and told me it would pose no harm to pregnancies.

    • Dr Ben May 23, 2012 at 8:20 am # Reply

      Sally –

      I’d rather see you on something like Metanx or HomocysteX or Neevo DHA vs Folguard.

      Which form of MTHFR you have? If MTHFR C677T, that requires more support than 1 copy of A1298C.

      I caution you with vaccinations – especially because you don’t know your child’s MTHFR status yet – perhaps his/her father passed on another MTHFR variant to your child.

      • Sally May 23, 2012 at 9:35 pm # Reply

        Dr. Ben
        Thank you for a fast response. I am heterozygous for A1298C. I am frustrated because I am 32 weeks pregnant and I have been on folguard the whole time.
        1) Would you recommend switching to one of your recommending vitamins NOW?
        2) Should I stay on these vitamins while breastfeeding or put my infant on any supplements?
        3) You said you caution with vaccinations-do you have a list of vaccinations you would recommend still getting or do you just caution any in general? I do not want to vaccinate my baby and my doctor made me feel very bad about that decision.
        4) What is your opinion on the Vitamin K shot infants receive at birth- do we give it to them? I am expecting a boy in July and I am so worried about this autism connection and I feel my doctors don’t know as much as you do.
        Sally

        • Julia June 7, 2012 at 5:02 pm # Reply

          Sally –
          3) If you do not want your baby to be vaccinated, don’t let the Dr pressure you! Trust your instincts, by all means do your research and make a well informed decision, but also know that most Drs believe in the benefit & necessity of vaccination and have so for decades. So for them to suddenly change their minds and happily recommend the opposite would mean they ‘did wrong’ most of their medical history, which is very hard for anyone to admit.

          Personally I have not vaccinated my now 4year old daughter, no Vit-K nor any other vaccine, and she has been much healthier than most of her vaccinated friends. It’s the vaccinated kids who run around with runny noses an coughs most of the time, even when ‘not sick’.

          I would recommend the following books:
          http://www.bookdepository.co.uk/Raising-Vaccine-Free-Child-Wendy-Lydall/9781442101807

          http://www.beyondconformity.co.nz/books

          If you do decide on some vaccinations, http://www.Mercola.com takes about a more “sensible vaccination schedule”, where you choose fewer vaccinations and only start immunizing from 2years old: http://articles.mercola.com/sites/articles/archive/2008/04/01/the-dangers-of-excessive-childhood-vaccinations.aspx

          Wishing you all the best with your little boy!

        • Annika September 15, 2012 at 6:50 am # Reply

          Sally, do not trust vaccines, trust in yourself. I was iucky enough to have a pediatrician who was open minded and able to inform me, especially since my child was more than colicky and very difficult to care for. Intuitively i did not feel like giving her vaccines, so i did not. I also studied all the books i could get a hand on by those that doubt the effectiveness of vaccines and also are aware of the many dangers that we are not told about. like I said, I did not vaccinate my kids right away, and once was forced to when my child ended up in hospital.. however, my child was not the same after the vaccines. I wish I had never let them give it to her. She did not get autism, however the challenges we had to go through was so difficult I would caution anyone.. now I know that she has the MTHFR gene. I am so much in the beginning of learning about the gene that I am not totally clear on where to begin. the doctors dismissed the MTHFR gene as anything important, even our naturopath, and I have yet to understand more of what we need. i hope now I have come to the right place…

  7. Amber May 23, 2012 at 3:45 am # Reply

    So, my question after reading this is do you recommend supplementing infants with MTHFR with bioavailable folate and b vitamins? I took Metanx 2x a day while pregnant, but I was unable to breastfeed (I did not produce milk) and thus my son is formula fed and does not receive proper bioavailable folate from me now. He is heterozygous for 1298C. Thank you for any information you can provide.

  8. Ben's Mom, Cherri June 8, 2012 at 7:03 pm # Reply

    Hi Dr. Ben

    My son Ben is 13 and significantly impacted by autism and epilepsy. Born in 1998, he has both the 677 and 1298 mutations and received the full complement of mercury containing vaccinations given up to age 12 months when he began to regress. We responded with diet and supplements and got him back on track and making progress…

    His story is exactly the perfect storm described in this article with an added horror; at age five he developed a seizure disorder and was prescribed Valproic Acid (Depakote) which unknown to us depleted his folic acid even further. We didn’t know about his MTHFR status and he took the Depakote for 6 years all the while becoming sicker, weaker and experiencing further regressions. This wasn’t just autism! He was using a wheelchair and so fatigued he couldn’t stay awake at school- he lost all the muscle tone in his face and began to drool.

    It wasn’t until we gave up on the mainstream allopathic neurology docs and went back into treatment with a complementary medicine doc that we discovered the MTHFR polymorphisms and immediately took him off the Depakote!

    I share this where ever I can because I want to should from the roof tops that this drug is POISON to kids (or adults) WITH AUTISM/EPILEPSY AND MTHFR!

    He did suffer thru a few months of seizures while we found a better medication routine, but now he is detoxed and amazingly healthy! We learned to completely detox our home environment- including organic foods, personal care and cleaning products, etc.

    His muscle tone has returned, he learned to run for the first time, he is no longer forgetting everything he’s learned at school. He’s learning to type to talk and most importantly he smiles again for the first time in years. For our family- this is recovery!

    • Dr Ben June 8, 2012 at 7:29 pm # Reply

      Cherri –

      Amazing story – thank you for sharing!

      May I ask who your son’s doctor is? I need to expand our referral list!

      This is why MTHFR.Net is out there – to help prevent – and help parents and individuals from getting misguided information and also empowering them with knowledge.

    • Lynn_M June 9, 2012 at 12:27 am # Reply

      Ben’s Mom, Cherri,

      I’m happy for the improvements with your son. I’m particularly interested in what you wrote about depakote, because it killed my husband, and none of his doctor’s could explain why he lost all muscle tone on it, and none of his lab work looked unusual. People need to be aware that this drug is indeed poison for susceptible patients.

      My story: At age 69, my husband slipped on ice outside our home and hit the back of his head on the ground. Five months later we learned he had a subdural hematoma (bleeding in the brain). He was in delirium by the time the neurosurgeon drained his bleed, and afterwards he was diagnosed with moderate dementia. Three years later, I placed him in a nursing home. He elbowed one of the nurses in the stomach hard, and the psychiatrist prescribed depakote for his aggression. Within 4 days he went from feeding himself, eating well, and walking the halls, to not being able to chew, not able to stand up at all, and almost comatose. The depakote was finally stopped on day 6, but he never recovered his muscle function. He couldn’t breathe deeply anymore and developed pneumonia 4 days later. He was in the hospital in a coma for a week, but the doctor said the pneumonia wasn’t bad enough to cause the coma. He did come out of the coma, but had lost the ability to swallow and sit up. I had a feeding tube placed, but a week later he developed pneumonia again. They said he had a heart attack because of his low oxygen level, and after a couple days of bipap, more antibiotics, and Plavix, he started bleeding from his kidneys because of the meds, I stopped everything and he died two days later, a month after he was on depakote for 6 days.

      I don’t know if he had MTHFR. I know that depakote can cause high ammonia levels in a genetic condition other than MTHFR, and his symptoms and EEG matched what I have read about high ammonia symptoms.

      I didn’t know depakote depleted folic acid. If so, it ought to be placed on a danger list for MTHFR patients. Would low folate levels account for near total loss of muscle tone? The preexisting brain damage may have made both Ben and my husband susceptible. Or is there some other mechanism at work to account for loss of muscle tone from depakote? I would really like to know why my husband reacted so terribly to depakote.

  9. Jen Aliano June 11, 2012 at 4:07 pm # Reply

    Vitamin D deficiency and its rise has also been linked to the increase in autism. It also plays a huge role in gene expression and protection against neurotoxins and heavy metals in the brain. Here is an article explaining vitamin D’s potential role and relationship in regards to autism: http://www.lef.org/magazine/mag2009/apr2009_The-Link-Between-Autism-and-Low-Levels-of-Vitamin-D_01.htm

    Looking forward to hearing more on this subject.

  10. HealthyandGrateful June 14, 2012 at 7:46 pm # Reply

    Hello Dr. Ben,
    I just tested positive for one copy of the C677T – Heterozygous. I also just found out that I am Estrogen Dominant with undetectable Progesterone. This is a huge piece of the missing puzzle. I have been trying to conceive for about 2 years with physicians telling me I had to go on Clomid, take Metaform for my insulin resistance (which I didn’t have) or go IVF. Thanks goodness I kept searching. I wanted to know why I missing my periods, spotting earlier than my period and why I gained so much weight, much in it in my belly, moody, depression and foggy feeling. Thank goodness for my new primary that ran this test. For the past 2 years I have been taking Folic Acid, and a Mulit with Folic Acid, Fish Oil and Vit D….all to help support a good healthy pregnancy. And just recently started with Milk thistle. But now having this information I feel like I have to be on Methyl Folate and Methyl – Sublingual B12 for at least 2-3 months before my husband feel comfortable with trying again. With my age 38, I just think my risk is too high to take a chance with not fortifying my body enough, especially with Methyl Folate. I just ordered Thorne Prenatal and Methyl Folate and will be starting Bio-Identical Progesterone from day 14 til menses. I just thought I would share my story and see if anyone had any other or similar experience.
    Thank you for this website. I have been on it for hours, trying to make sense of this all and get some questions answered.

  11. Monica June 21, 2012 at 1:35 pm # Reply

    Dear Dr. Ben,
    I have a boy of 3, 3 yr old with ASD. We are living in east Europe. I intend to make for him a genetical test for MTHFR mutation. My question is, is it necesary to do ? Because During pregnancy I made an amniocenthesis test, which was OK.

    What are the symptoms of a child with one of the mutation?

    I decided to ask you because here, in my country, the drs do not make any research about the implication of these gene in autism.
    Thank you very much. Sorry for my poor English.

    • Dr Ben June 21, 2012 at 6:28 pm # Reply

      Monica –

      I do not think the aminocentesis evaluates for many of the methylation defects such as MTHFR. I may be wrong but I don’t think I am.

      Lab testing for MTHFR is good information to have –

      Is it essential having results? No.

      Can you move forward and make some lifestyle and dietary changes without having the results of MTHFR? Yes.

      There is a TON of information on ASD which is obviously very overwhelming.

      I must insist that you start with cleaning up his food choices immediately and also helping heal his digestive system. These are both very important.

      Please eliminate ALL gluten from his diet to start –

      Even eastern European countries now have genetically altered wheat.

      There are no clear cut symptoms of those with MTHFR mutations – there are so many possible symptoms.

      Speech delay
      Mood disorders
      Sleep problems

      My wife speaks Russian and I understand a fair bit of it myself. If you would like to schedule a consultation, please do so.

    • Monica August 22, 2012 at 12:29 pm # Reply

      Dear Mr Ben
      I did the genetic test. the results are :
      1. for the mutation A1298C : NEGATIVE
      2. for the mutation C677T -: genotip homozigote . They told me to make also a homocysteine test for blood. the lab told me that this mutation is linked with the level of folic acid and vitamins. ( My son treatment has vitamins B 10/20 days per month for a year)

      Because our dr”s do not link this mutation with autism I would apreciate yr advise.
      I am from Romania-Bucharest.
      Thank you very much

      • Monica August 22, 2012 at 12:33 pm # Reply

        Dear Sir,
        I forgot to say that we are in a diet Gluten free for almoust one year, Also we use , as possible not sugar instead of it we use xylitol or stevia rebaudiana,
        also we use milk without lactose , my sun did not give up drinking milk .

  12. Sciencemom July 21, 2012 at 4:14 am # Reply

    I have inherited the homozygous mthfr c677t and my youngest son is autistic. I miscarried just a couple months before becoming pregnant with my son (13 years ago.). The pregnancy was not smooth and the baby had an 11mm cyst in his brain (which later resolved.). I had no idea about this genetic issue I inherited and consequently was not able to hedge against its effects during pregnancy. I took prescription iron supplements and prenatal vitamins. My pregnancy and delivery were frought with serious, life-threatening complications for both the baby and me, but my doctors never thought to check for any genetic problems with me. We were very fortunate to have made it thru everything that came up. Why isn’t testing for these things protocol?

    • Dr Ben July 25, 2012 at 6:49 am # Reply

      You ask an important simple question that has no easy answer.

      Testing for genetic mutations – such as MTHFR – needs to become mainstream and a public health policy – especially in high risk patients and/or certain ancestries where it is highly prevalent.

      I am working on making this happen ;)

  13. Julie August 3, 2012 at 8:10 pm # Reply

    Dr. Ben,

    Recently I had a pregnancy loss at 21 weeks. Baby had spina bifida, chairi malformation, bilateral club feet and mild polyhydramnios. I was tested for MTHFR and I was positive for heterozygous. My doctor has put me on folic acid 4mg, and also prenatal essential dha.

    I also have a son who is 5 who was diagnosed with mild autism a year ago. When I was pregnant with him I had preeclampsia, gestational diabetes and he was delivered early at 34 weeks. He had no problems except low birth weight.

    My question is are there any other supplements or vitamins I should be taking. We aren’t planning to try to conceive again for 6 months but I did start my prenatal vitamins and folic acid today.

    Thanks! Julie

    • Dr Ben August 5, 2012 at 7:18 am # Reply

      Hi Julie –

      I recommend you read the article on Prenatal Supplementation. Should you have further questions, I am available via consults.

      In health,
      Dr Ben

    • Jen Aliano August 6, 2012 at 5:21 pm # Reply

      Hi Julie,

      All the problems you listed from your previous pregnancy (with your 5 year old) have been tied to vitamin D deficiency. I would suggest special attention to your vitamin D levels (getting them up to the 40-60 ng/mL range) and supplementation as Dr. Ben and your care provider have recommended.

      Best of luck to you, and so sorry for your loss,
      Jen

  14. Paul September 20, 2012 at 11:34 pm # Reply

    Hi Dr Ben

    Quick question my son (who is autistic) tested for elevated amounts of B12 and B6. Could this mean he has methylation problems? If so what does it mean?

    Thanks
    Paul

    • Dr Ben September 21, 2012 at 4:37 am # Reply

      Hi Paul – there are many reasons for elevated B12 and some for elevated B6. Methylation problems for B12 – yes. And phosphorylation problems for the B6.

      • Paul September 21, 2012 at 10:10 am # Reply

        Which I assume can mean MTHFR mutation?

  15. TR Morris September 21, 2012 at 7:56 pm # Reply

    What is the proposed mechanism for how FA supplementation increases the frequency that MTHFR variants are passed on? In fertilization, the sperm would contribute one of the father’s alleles, and that the egg contributes the other allele from the mother. Can you explain how a FA supplementation could increase the frequency of sperm and/or egg selection for gametes with the MTHFR variants? It sounds like you are suggesting that the FA decreases the viability of gametes with normal MTHFR genetics. That’s puzzling to me.

    • Dr Ben September 21, 2012 at 9:00 pm # Reply

      Hi TR –

      This article is very incomplete as it is just an intro to a topic which needs much explanation.

      FA supplementation does not increases the variants.

      FA supplementation increases the survivability of the fetus with MTHFR variants. This is due to folic acid decreasing homocysteine, supporting methylation and supporting DNA production.

      Then the infant with MTHFR has to survive in our polluted environment with industrialized food.

      Combined with the MTHFR defects and the environmental issues, autism increases.

      The variant of MTHFR will be passed on regardless of supplementation. It is the epigenetics of MTHFR which can be altered in utero – and in living on our planet.

  16. Randall Marshall October 1, 2012 at 7:28 pm # Reply

    “Countless children with autism have at least one bad allele of MTHFR – and many have two. ”

    This seems like a sound theory, but a lot of it hinges on this line. Citation(s)? I’m seeing a lot of people throwing around a lot of numbers that frankly look made-up.

    • Dr Ben October 2, 2012 at 5:02 am # Reply

      Randall –

      Here are 18 citations using “MTHFR autism”

      If we look at how MTHFR affects methylation, it is easy to understand why many children living in our current environment and eating industrialized food can become one on the autistic spectrum.

      There may be people throwing around a lot of numbers on this website; however, I don’t throw around fake numbers.

      MTHFR is very prevalent yet goes untested and unidentified. This leaves to children with MTHFR receiving vaccinations, nitrous oxide and medications that they need to be vehemently avoiding. If they don’t avoid them, they are at risk for joining the statistics for autism.

      • Randall October 2, 2012 at 5:12 am # Reply

        Great… Most of these articles have prevalence numbers for at least a sampling…I’m going to read every single one of them, thank you very much.

        • Dr Ben October 3, 2012 at 4:35 am # Reply

          Randall –

          My pleasure. If we step back and look at the bigger picture, any methylation defect is going to predispose one along the autistic spectrum. If toxins go in, they must go out; however, in those with autism, they are overloaded and these toxins interfere with their neurological and immunological systems.

  17. Florence October 4, 2012 at 1:36 pm # Reply

    Should anyone who has tested for low B-12 be tested for MTHFR? I have been tested for low B-12. I tried three different brands of oral methylcobalamin (which also contained other B vitamins) and was unable to tolerate all three (made my symptoms worse). I started taking shots (of methylcobalamin) and my symptoms are improving.

  18. Melissa October 24, 2012 at 2:09 am # Reply

    Dr. Ben,

    Thank you so much for this article. I have a few questions.

    I have hetero mthfr c766 and fvl. I found this out after a stillbirth at 32 weeks in an otherwise perfect pregnancy. My homocysteine levels were normal and there were no blood clots observed.

    I now have 2 sons. During these pregnancies I took lovenox and baby aspirin but not extra folic acid. My older son is 2 and appears to have autism. He is speech delayed, has low energy and low muscle tone, and some social anxiety. We are currently treating him with mb12 injections, multiple supplements, and working on clearing a candida and bacterial overgrowth.

    Do you think my still birth and son’s autism are related?

    I also have a 6 month old baby boy who is NT and very engaged. I am breastfeeding him and give him a probiotic and cod live oil with d3. I take sublingual b12, calcium, mag, zinc, and d3. Anything else I can do to make sure my milk is healthy for him?

    We are doing a delayed vax schedule for the baby and skipping a few, but unfortunately didn’t know to do this for my older son.

    Thank you!

  19. Joanna December 10, 2012 at 4:15 pm # Reply

    We received the results of nutrigenomic testing (Dr. Yasko’s) for our daughter a couple weeks ago. She was diagnosed with severe autism at 19 months. The results show no MTHFR mutations. However, she has many others : 5 double and 12 single ones . How unusual is that?

  20. Jessica December 18, 2012 at 6:50 pm # Reply

    Dr. Lynch,

    According to the above article, it is imperative for parents to test for both MTHFR variants prior to conception, and supplement appropriately during the prenatal period. You also mention that depending upon the MTHFR status of the child, proper supplementation is crucial for avoiding autism and other diseases — to not abandon them once they have left the “enriched folic acid of the womb”, but you do not lay out your specific recommendations for doing so.

    Can you please provide your readers, who are desperately trying to provide optimal health for their children, a supplement guideline for infants and children who are C677T (hetero/homo), A1298C (hetero/homo), and compound C677T/A1298C. A chart with each genetic scenario and the suggested supplements and dosages would be very helpful. Also, it would be nice if you would take into account those who choose to breastfed and those who do not.

    Sincerely,
    Jessica

  21. Toni December 28, 2012 at 5:45 am # Reply

    I also had the thought that folic supplementation might be increasing the odds of babies with MTHFR being born instead of miscarried; and hence an increase in autism from just that. I am glad to see someone with a sounding board have the conclusion as well.

    My son seemed to be developing NT-ly but I weaned him at 15 months (dec 2007) and he started showing issues afterwards; and began having seizures apr 2009. I think he was fragile before I weaned him and after which, things worsened.

    My daughter has Asperger’s (age 7) and my son has Epilepsy (age 6)
    and both of them are compound hetero; as I am homo 1298 and my husband is homo 677.

  22. Dani January 4, 2013 at 2:40 pm # Reply

    Dr. Ben,

    My daughter with ASD is heterozygous for the A1298C mutation. Her glutathione levels are in the normal range. Her B12 blood levels were checked and in normal range. I tried Sublingual Methyl-B12 supplements (5,000 mcg as methylcobalamin) but it made her line things up even more. What do you suggest for her?

    Thank you

    • Joanna January 4, 2013 at 11:08 pm # Reply

      Hi Dani,
      I am not a doctor but a graduate student of human nutrition and a mother of an autistic child. We tried B12 5000 in a liquid form by pure encapsulations because you can work with smaller doses . Also, if you haven’t tried it yet , combine it with the methylfolate. We used 600mcg of B12 with 800mcg of methylfolate twice a day. Sometimes you might have to start with lower doses to see how the body adjusts and then gradually increase the doses. Hope this helps.

  23. Greg January 24, 2013 at 1:57 pm # Reply

    Here is something that doesn’t make sense to me with this theory.

    If the mother has one of these polymorphisms, that means she has a gene that is defective with methylating…. so the standard folic acid supplement should NOT be helping her, right? I mean, isn’t that the reason you recommend that all people with this SNP supplement methyltetrahydrofolate INSTEAD of folic acid? In fact, as I recall, supplementing folic acid should make the methylating problem worse in the body.

    Then how is it the case that supplementing pregnant women with folic acid will increase the likelihood of children being born with the defective methylating gene? Shouldn’t supplementing with folic acid be having the exact opposite effect– making those fetuses with the MTHFR SNP LESS viable, not MORE viable?

    • Dr Ben January 26, 2013 at 8:38 am # Reply

      Greg –

      I know – it is confusing.

      If the pregnant woman did not supplement with folic acid, the potential for miscarrying the developing fetus is higher than if not supplementing with folic acid.

      Supplementing with folic acid is better for methylation than not supplementing with any form of folate. The body will still have some decent methylation occurring with the presence of folic acid; definitely not as much as if a mother was taking folinic acid or methylfolate

      I definitely prefer using choline, methylfolate, methylcobalamin and folinic acid during pregnancy than I do recommending the use of folic acid.

      To sum up, if a women supplements with folic acid and carries to term, that baby’s genetics are brought forth into the population.

      If a women supplements with methylfolate, the potential for miscarriage goes down and the developing fetus goes on to be born into the population.

      Once the baby is born, it is imperative that the lifestyle, diet and environment be conducive to health promotion; if not, issues like autism are going to be prevalent due to a genetic defect localized in a critical area of methylation.

      • Greg January 26, 2013 at 1:58 pm # Reply

        Dr Ben–

        Thanks for the reply.

        I guess I just don’t understand why, if the mother and baby BOTH have the MTHFR mutation, why supplementing with folic acid should decrease the potential for miscarriage. I may be mistaken, but I thought that supplementing with folic acid for those with the MTHFR gene mutation would make their situation WORSE not better?

        You seem to be saying that this is not the case— that even folic acid with help those with this mutation a little bit.

        In any event, won’t supplementing with folinic acid or mthf ALSO decrease miscarriage and cause these genes to be more prevalent in the population? That seems to also be perpetuating the “problem.”

        I guess the best course of action would be to gene test these babies and then supplement methly donating supplements throughout life?

  24. Pamela P February 3, 2013 at 11:42 pm # Reply

    Wow, this is incredible. So many question: “Detection of the C677T polymorphism as well as other methionine cycle enzymes related to folate metabolism and methylation at birth as part of newborn screening programs could determine which newborns need be monitored and maintained on diets or supplements that ensure adequate folate status during this critical postnatal neurodevelopment period.”- is such a test readily available if the parent of a newborn asked for it? If so, what exactly is it called?

    Also, if “Women need to supplement with L-5-MTHF and Folinic acid – not folic acid.” are these supplements readily available and is there one that you recommend?

    A good friend of mine just had her first baby at 40 so I am very concerned about this and would like to give her helpful advise without stressing her out unnecessarily as a new mother.

    Thanks!

  25. Pamela P February 4, 2013 at 3:14 am # Reply

    My neighbor’s son is 24 years old and severely autistic. If he has the MTHFR gene mutations, would the types of supplementation that you recommend improve his condition at this point, or is it too late? I think he was diagnosed at 3 years old or so.

  26. sorryIfunclear February 16, 2013 at 3:55 am # Reply

    I apologize, its possibly not really related and I am yet not much into the subject, but when looking back at my and my families history, I believe that I (female) do have MTHFR/DHFR deficiencies. I thought, that the gene deficiencies are inherited to males and females alike, though the blood type , homocygous etc plays certainly a role as well, in terms of how severe the outcome will be. My point is… the females in our family (history) seem to have children, that are affected, but not badly. the males in our family (that married “healthy” females) seem to have children, that might be severely affected. so, its primarly the males (non affected) wives, which have to be supplemented during pregnancy, as they dont have the “immune” system, as the female gene-deficient daughters have…

  27. Sue February 20, 2013 at 1:02 pm # Reply

    Dr. Ben,
    I have a 20 month old healthy baby. After this, I had a miscarriage at 7.5 weeks, I was passing very large clots and had to have an emergency DNC as I was losing too much blood. About 7 months later, I had another miscarriage at only 6 weeks. This was not near as bad with very minor bleeding and no surgery needed. I would like to try to conceive again, but am very conflicted. My OB wants to just put me on Lovenox as soon as I find out that I am pregnant. My progesterone levels (1) were also very low with the last pregnancy. I am currently take the Thorne prenatal vitamin. I have the MTHFR homozygous C677T mutation. I want to make sure that I am doing everything I should be in order to hopefully have another happy healthy baby. I hate the idea of having to take lovenox, but I do not want to miscarry again. I feel like maybe I am just pushing my luck, and should just be happy with the child I have. However, I want so badly to have another child and for my daughter to have a brother or sister. Any advice you can give would be greatly aprreciated.

  28. ana February 22, 2013 at 9:29 am # Reply

    Hello Dr Ben
    Im really grateful to find your website after I recently found out that I have MTHFR C677T Homozygote. I have been unwell for about 4 years and have seen so many doctors, naturopaths, spent so much money and no one really helped until I went to see an immunology gyno who tested me for MTHFR. It has been about 4 years since I started taking folic acid and realise that is when I started to get unwell – low energy, hair falling out and thinning, dry skin, exhaustion, cold hands n feet – thyroid type symptoms but my results were always ok. We have been trying to fall pregnant for 3 1/2 years and has been such a struggle to pinpoint my health and fertility issues until a few weeks ago when I was advised I have MTHFR. I took 500mg folic acid for 4 years as I wanted to have enough folic acid before I got pregnant. Im confused and wanting to clarify if this action could have made my body worse. I live in Australia and am seeing if I can get some Methyl folate locally or can import it. Im awaiting a biopsy next week to see if I have natural killer cells and then the Gyno will have a plan for me. I would like to be clear on folic acid as many naturopaths just prescribe very high dosages and activated B’s. I appreciate all the study that you have done as it helps people like me who have been struggling for so long to find out : )

  29. Holly April 3, 2013 at 9:10 am # Reply

    Dr. Ben,
    I was born in 1980 before they even began adding folic acid into the food supply and I have c677tt, the homozygous mutation. So are you basically saying that folic acid is completely to blame for this mutation; because if so, why did I end up with it and survive birth? I don’t know but something tells me there is more to the puzzle as to why some have the mutation and are fine and others end up with autism and other ailments. I am of Italian ancestry and I know you said it is prevalent in certain ancestries, so maybe it has to do with what foods were eaten in abundance that turns these genes off or mutated. Maybe high folate foods were also highly available to these ancestries and the genes that convert folate to active form weren’t needed as much and hence changed overtime. Now our soil is depleted of nutrients and animals are sickly and being fed crap gmo and whatever they aren’t naturally supposed to eat and we end up with the end result of little good nutrition. Maybe the entire food supply is the clue here. Italians eat lots of cheese, seafood and lots of greens, Mexicans eat nixtamalized corn and lots of beef high in folate and of course beans, Asians eat lots of green leafy and sea veggies, and seafood. Now Americans that have immigrated from those other countries are getting processed junk not of their ancestral diet so they end up suffering from disease more due to lack of natural folate from their diet. If they are still able to convert some folate even with a homozygous mutation, then if the diet had plenty of food folate and natural environment was clean, no post WW2 toxic crap, then all is well, correct? That is what it seems to me. Also, if the person is producing less enzyme, does that mean less tax on the body as a whole, as in longer life span if they are otherwise healthy? The less a person weights also means they need less folate since there’d be less cells in the body to repair. Too many people are now obese, not slim like their ancestral heritage, also adding to the problem of diseases due to lack of dietary folate. Heavy people get congested blood and folate can’t get in the cells as easily. There’s got to be another explanation other than this is a mutation and a problem because maybe even though it looks bleak, maybe there is a reason behind the mutation. We still have to figure out why before jumping to ultimate conclusions. DNA is so complex and we are just scratching the surface, I know you know this but just reiterating the fact. I think you are doing great with helping people become aware. We still need to get farmers and the USDA to listen though and change their practices with food and animals because this is the ultimate problem! Socrates said “let food be thy medicine and medicine thy food.” Also water purification needs to change methods here in America and stop adding toxic fluoride since it also depletes iodine, another player in addition to vitamin d with how the body functions. Also plastic needs to just die. There has to be a biodegradable cheap alternative besides back to glass. Hopefully the change will happen sooner than later and more people will wake up and realize the answers are simple. Thanks for your time and good luck with your research and teachings!

  30. Noel May 23, 2013 at 6:06 pm # Reply

    Sorry doc, referring Amy Yasko is certainly a bad choice. Although you did lose me there as a reader, I still read through and I can tell you, my son’s friend does not have any MTHFR mutation. Actually, I have his report in front of me right now. Let me know how his mother should let you or Yasko know about it (and what is she going to do about it, will she retract her statement?)

  31. Olivia August 1, 2013 at 7:48 pm # Reply

    Of course this is only my opinion.

    I’m always open to being wrong, and what I’m about to say is a general statement so understand it as such, but I don’t think that MTHFR is causing autism due to maternal intake of folic acid nor do I believe that these children would have otherwise been miscarried were it not for folate supplements. I don’t agree that these children are not supposed to be here or would have been otherwise miscarried by letting nature take it’s course. It’s too simplistic and I believe the problem to be much more complex.

    Reason being, there are many of us who arrived here long before prenatals and suggestions from doctors of folic acid in pregnancy, meaning our parents have MTHFR (mine do) and further back down the line, and so on, etc… They lived good, long, healthy lives. Why? What has changed?

    Instead, I think that the MTHFR problem in combination with poor diet and antibiotic overuse and pharmaceutical assaults (vaccines) is causing health problems, ranging from mild to severe, depending on the person and choices / lifestyle of the person and/or family. Poor diet, antibiotic overuse, and the increase in vaccines are more recent happenings, from what I have read, all starting around the same time as the increase of autism. I think MTHFR is only a piece of the autism puzzle. I do think MTHFR makes a person more susceptible, vulnerable, to health damage.

    By poor diet I mean folic acid (synthetically) fortified foods, poor farming practice (pesticides, herbicides, etc…), overfarmed / mineral depleted soils, processed foods, and food grown in “dead” soil (no live giving microbes,worms,bacteria,etc…), empty foods, chemicals and synthetic flavors, colors, additives, fluorinated water, and unclean water (containing prescriptions, etc…), oh and severe overuse of roundup which leaves residues on food, soil, etc… We are just starting to learn about what those residues do to us. What about the cumulative effects on soil? How about on us? Nobody knows.

    I also think the overuse of antibiotics has changed the bacterial population of our bodies causing us to digest differently, and causing a change in the way nutrients are extracted from food, and causing a change in the way certain vitamins are manufactured in the body, not to mention the more visable problem of obesity. The increase of cesarian sections have also had a negative impact on bacterial populations.

    Then of course there are the direct chemical assaults on the body as well, vaccines. They often prompt other medications such as Tylenol, and the list goes on. Some are encouraged by their schools and/or doctors to put their children on long term medications for various reasons such as ADD, ADHD, depression, etc… Doctors are given insentives to prescribe not to cure.

    The more assaults on the body from any of these the worse the symptoms of MTHFR become, the more other symptoms appear from things like autism, aspergers, etc….

    For this reason, I feel it’s important to know if you have MTHFR so that you can avoid as many of these as you can. I believe it’s cumulative and gets worse with each generation.

    These are the main issues in my opinion and then throw in other issues like air pollution, chemicals in the home (cleaners, carpet, vinyl, etc…) and it just gets worse!

    Well, that’s only my opinion, and I’m always open to learning from others.

    • Dr Ben August 1, 2013 at 10:58 pm # Reply

      Olivia –

      I agree with you.

      The MTHFR variant is not the ’cause’ of autism nor has it been around for only a short time. It’s been with the human race for quite some time.

      My point is that now that our environment, lifestyle and diet are so poor, the MTHFR defect is really starting to show itself symptomatically in susceptible individuals.

      Those born with MTHFR (and by saying this, I mean the MTHFR variant of course), are more susceptible to these hazards. What I think is happening is the woman is working hard to become pregnant (artificially or with the aide of various medications), stay pregnant (with the aide of various medications) and then deliver a fairly healthy child. This child is ‘fine’ until it gets off the breast and faces the real world environmental issues mentioned above – GMOs, pesticides, herbicides, etc. Then, this young child is more susceptible and higher risk of autism.

      My biggest rant here is there is a ton of work being done to help a woman get pregnant, they stay pregnant but there is not much help to the newborn and young child. This is a big problem and must be addressed.

      Standard medicine is not addressing this at all in my opinion.

      Thus – what we are doing is creating an inferior gene pool which is being affected by the environment we all live and breathe in.

      This is a vicious cycle that will continue to perpetuate itself until we improve our environment and start acknowledging the importance of optimizing the health of the newborn – and maintaining it throughout life.

  32. Olivia August 2, 2013 at 4:27 am # Reply

    Dr. Ben,

    I couldn’t agree with you more. That’s exactly what I believe too. You have put it in words beautifully, thank you. We are lucky you are doing all you do. You are a rare physician and person in this world! Please know how much I and countless others appreciate you and your work! You are making a difference in the world that will help so many people.

    Here is my situation, if interested:

    I have C677T and A1298 and I’m quite sure my toddler son is affected too. I’m not a hypochondriac but I am a concerned mother with more love than I can express for my son. We always wanted to have 5 children or more but here I am of advanced age, lucky to have my one son, due to doctors who have no clue. I was misdiagnosed and not given the proper treatment time and time again. My son is here due to MY efforts, MY self education, and MY lifestyle and supplement plan which I figured out on MY own before I ever knew the explanation for my “unexplained infertility” – MTHFR and the autoimmune fertility issue I have (activated NK cells in the uterus). If I had only known sooner!

    Fortunately for my son, based on my own experiences, I do not allow vaccination, we eat 95% home cooked, unprocessed, organic, and we are very careful about what he is exposed to in the environment physically and mentally. He drinks raw milk too. I’ve had him on probiotics since birth. Unfortunately I was unable to breast feed, no milk. Nevertheless, he is a beautiful, happy, thriving, healthy, calm, very intelligent little boy!

    His only issue is that he is having speech delays and just now starting to speak somewhat understandably and in sentences at age 3. He knows what he wants to say but has a hard time getting it out and is quite frustrated. I have spent a lot of time searching for an appropriate vitamin and mineral supplement for him but each time I am disappointed. Instead I am giving him smaller doses that I have to approximate from adult vitamins, each one separate, and putting it in his juice. It’s not fun, not to mention expensive. Still, very soon after I started giving him the vitamins this way, he started to speak and he has been improving very dramatically. I do not suggest anyone else try this!

    We need a supplement for these little children, something appropriate, healthy, and affordable that covers all the bases.

    I’m trying to have just one more baby so my son can have at least one sibling and you’re right about the money spent on infertility. We have spent everything we have and now are going into debt. If I were properly diagnosed, much less would have been spent and I would have many more children. It didn’t have to be that way if my physicians had a clue, kept up with times, or at least listened to me. We are considering adoption if all else fails in the next few months. (Any prayers appreciated!) My husband and I are doing all we can to prepare our bodies and improve our health as you recommend prior to trying.

    I quit my job and spent the last 8 YEARS educating myself so that I could figure out the health problems and needed treatment for my husband and I to be healthy and for us to have our son. We have not found one physician in our area with enough education or experience to help us and we live in one of the largest cities in the US. We have made enormous sacrifices to do this but we’ve had no other choice.

    Thank you for the recent seminars too, I truly appreciate them! I apologize for getting a little off topic or if this is in the wrong place. If so, please do delete it or remove it.

    Olivia

    • Dr Ben August 2, 2013 at 5:34 pm # Reply

      Olivia –

      My first thought is that he may be deficient in various nutrients – which is obvious to you. I do understand the need for an easy-to-deliver supplement for kids. I will be working on it. We have a chewable multivitamin that has various active forms of nutrients in it – and the taste is decent.

      I would also suggest you consider:
      - Optimal Creatine – common deficiency in those with speech delay.
      - Optimal Liposomal Vitamin C – as this contains not just vitamin C but also phospholipids which are key for his brain development. Choline deficiency is common in those who have speech delay.

      Milk is found to cause antibodies against the folate receptors in the brain. It may be worth eliminating all dairy for a month and seeing how he does. If no change, then he is likely fine with it.

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  34. Kimberly Booth September 27, 2013 at 2:54 am # Reply

    Wow this is very interesting. I am curious as to how this affects my son and myself. I have 2 copies of C677t. My son has one copy. He was a surprise baby so I was not on prenatal before conception. During pregnancy I tried to take all sorts of prenatals and was not able to break them down because most were synthetic. I began having heart palpitations, and an irregular heart beat on occasions. I had no idea at the time about the mutation and could not figure out why I was unable to take prenatals. About midway into my first trimester I stopped taking prenatals all together. Now I know about the gene mutation and understand that my body cannot break down or absorb synthetic vitamins. I have read that folic acid can store in your body instead of your body using it or processing it. After having all the trouble with synthetic vitamins, I know feel like I am one of those people who cannot process folic acid. If this is true, then would my baby have received it in Utero and also not be able to process or break down the folic acid just as I couldn’t? I also breast fed my son for 12 months without prenatals. I was drinking protein shakes on a regular basis that did not bother me. Something to consider…When my daughter came along…another surprise… so I was not on prenatals again…I found an all natural food based prenatal and I took them the whole time I was pregnant and while I breast fed for 14 months. My Son has the Autism Diagnosis and had 7 vaccines total. My daughter is A-typical and not vaccinated.

  35. brena October 12, 2013 at 6:49 pm # Reply

    Hi,

    Sigh. Where to begin. Ok so my husbands sister is compound c677t and a1298c. She recently lost her baby at 24 weeks. Now we know my mother in law has c677t and my father in law has a1298c.

    There’s crazy amounts of things that my mother in law thinks is related to MTHFR, one cousin has aspergers. One cousin has had 3 miscarriages but 4 living girls. One cousin has MS, her dad has MG. My two boys, my husband, and his brother all have midline defects. The list keeps going.

    Well now theres two cousin with speech delays and sensory issues. My oldest was just diagnosed with SPD and has over a year delay in speech, plus emotional-social skills and adaptive skilla – - it’s now being questioned if he has autism.

    I have already taken my son off dairy since he hast been able to tolerate it since he was one. He never really did well with formula either. But now we are questioning going gluten free with him. He is super hyper and rambunctious. His sleep habits are awful, melatonin and weight blankets help but jot much. He doesn’t listen when called upon. He has poor eye contact and no sense of danger or pain. He is 12 months behind in speech and is getting his hearing tested next week.

    It’s crazy! I know my husband is at least a carrier of one of the genes because of his parents, but refuses to get tested and think this whole mutation thing is bogus. But my mother in law swears up and down this is all related to MTHFR. Oh and we saw a genetics doctor and at the time we didn’t have as much info as we do now on the family so he didn’t see a need to even test my boys.

    Is there anything I can try with my son to help him?
    Is there any correlation between his behaviors and mthfr?
    Would be benefit from any kind of supplements?

    • Michael B May 22, 2014 at 9:37 am # Reply

      Methylfolate supplement. Cranberries (N-Acetyl-Cysteine/NAC acid) before meals to prevent leaky gut.

  36. Scott October 31, 2013 at 11:11 pm # Reply

    It seems that there have been more recent articles that show that peri-conception maternal use of folic acid is linked with reduced likelihood of autism in the children of those pregnancies. One example that looks like it was well done is found in this article: JAMA. 2013 Feb 13;309(6):570-7. doi: 10.1001/jama.2012.155925.

    Another site references the above article with some additional insights and references:
    http://www.jpeds.com/article/S0022-3476(13)00525-8/fulltext

    I am curious if you have reviewed these or other more recent studies on folic acid during pregnancy and autism.

    • Dr Lynch November 1, 2013 at 12:38 am # Reply

      Hi Scott –

      I have seen these. While folic acid may have reduced the incidence of autism in this group, it doesnt mean that it is the preferred form.

      They should have used a combination of methylfolate and folinic acid – using folic acid has many other issues which make it far inferior.

      There are many reasons why folic acid is inferior – I went over this in my most recent two day conference.

  37. Kelly February 17, 2014 at 2:13 am # Reply

    I really enjoyed your reading your article/research. It especially hits home, as we approach an ASD evluation for our three year old in April. His therapists believe he’s high functioning, and his language has grown leaps and bounds in the last year after intervention. My husband and I are considering having another child. My husband has ADD, so does his father and he also has two first cousins with children on the spectrum. I find it interesting as you stated the MTHFR gene is prevalent in Italian and Mexican popultations as that is my husbands background. We’re both going to ask our internists to test us for the mutation, but where do we go from here. I have found supplements with the folinic acid/Quatrefolic but it also has the folic acid which you state it shouldn’t. Can you recommend a prenatal? Also, what should my husband be doing/taking? Thank you SO much.

  38. Rachelle February 26, 2014 at 5:40 pm # Reply

    My research shows that folinic acid is not a good supplement for those with the mthfr defect because both folic acid and folinic acid cannot be properly converted and absorbed by people with this genetic mutation and may actually block folate and cause folate deficiency symptoms. That being said, I come form a family history of bi polar, anxiety and depression….having similar symptoms myself, I supplemented with 5-mthfr and had great results, a month later I tried folinic acid, within days I had severe symptoms of folate deficiency including increased seborrheic dermatitis and severe restless legs and lethargy….and restarted the 5-mthfr and feel much better. Pass up the folinic acid and go straight to the 5- mthfr.

  39. Michael B May 22, 2014 at 10:21 am # Reply

    To add to the research, I am a programmer and did a trace on the chemicals involved from MTHFR to the adrenal system, through Cortisol (adrenals) down to the immune system, including leaky gut, inflammation, and stress, and to needing to use more serotonin and cortisol again.

    -The links are that Folate conversion to Methylfolate is reduced or dimmed by the MTHFR gene. When there is Methylfolate it can grab B12 and Homocysteine and make it all into Methionine which feeds the adrenals. Which is what you want.

    -The adrenals power Serotonin, Cortisol, Adrenaline, Noradrenaline (natural focus), Dopamine (reward), Aldosterone (acid/alkaline balance).

    -When stressed we use Serotonin and Cortisol. Cortisol controls inflammation, pain killing and the fight/flight/freeze reflex (reducing them). It also gives us “Cortisol Concentration” aka the death stare. Restless leg, stimming, jittering.

    -The “Antiporter-X” pathway is inhibited by the fight/flight/freeze reflex from turning ‘Cystine’ into ‘Cysteine’. ‘Cystine’ gives us hightened senses as is normal. ‘Cysteine’ is one of the 3 chemicals required for Glutathione (immune system) and digestion, preventing “leaky gut”. So this is where it’s either one or the other in terms of fight/flight/freeze, or digest food. Digestion (and the immune system) here is “locked out” due to an inability to produce enough Cortisol to handle inflammation, pain killing, and the fight/flight/freeze reflex. If the adrenals would be fed with more Methionine then this would be possible to be under control, and not constant 24/7.

    -’Cysteine’, in times of relaxation, besides making 1 part of Glutathione (stopping leaky gut, and resultant inflammation and pain killing), also makes Taurine for heart & muscle control, and sways the synapses to being more ‘learned/aspirational’ rather than ‘inhibited’, via the chloride flow. More Glycine – more inhibited. More ‘Cysteine’ – more apsirational. But ‘Cysteine’ also can rapidly oxidise into ‘Cystine’ without Thioredoxin (vit C & E, and Selenium help). Selenium also is for the Thyroid in making energy.

    -Mercury oxides, including from teeth fillings, DEACTIVATE Selenium and ‘Cysteine’ because their thiols are sulfer. AKA “Mercaptides” because of the relationship mercury has with sulfer.

    -Back to the Fight/Flight/Freeze reflex, this means you have high ‘Cystine’ (high sensitivies), low Taurine (low heart/muscle control – your heart and muscles react at everything), no digestion, and inhibited synapses. Very aggression-ready, but thats not what you want 24/7.

    When there is cortisol, there is more control of the above. The adrenals are fed more with more Methionine, including acid/alkaline balance, feels reward again.. and so the person is back to normal. Potassium/Sodium (chips & salt) is also required for the acid/alkaline balance. Cranberries contain ‘Cysteine’ so should be eaten before meals – it also breaks down Gluten. A handful of them beofre gulping down a lot of folate has been a great benefit (bread & vegemite).

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