Sunday, September 30, 2012

MTHFR - Connecting the dots

When the tears dry enough for you to see through them, it is natural for us to look back and ask, what happened?  And there are more answers than we think.  One of the answers lies in the MTHFR gene mutation that many children with autism have.

The MTHFR gene mutation argument starts at conception.  Per Benjamin Lynch, ND of ,  “Folic acid supplementation while pregnant is old news.  Women need to supplement with L-5-MTHF and Folinic acid – not folic acid.”  Folinic acid is the broken down form of folic acid.  It is estimated that about 25% of the population has a MTHFR gene mutation which has many adverse effects.  One of the effects is the inability to break down folic acid and it must be supplemented in the form of “methyltetrahyrofolate” or “metafolin” or “folinic acid”. When the body cannot break down folic acid, you end up with high levels of homocysteine.  The effect of high homocysteine takes many forms and they are still being discovered.  But here is what we know:

The effects of a MTHFR gene mutation can be:
Blood clots, stroke, depression, autism, bi-polar disorder, cardiovascular disease and infertility or several miscarriages. 

And how is the gene mutation “turned on”?  Usually methylation is inhibited by Candida overgrowth in the GI tract.  And what is the #1 Cause for Candida (or yeast)?  Heavy metals…Yup…there it is again.  The Autism and Heavy Metals connection. 

Now to connect the dots…..

For us, it took over a year to conceive to our first child, and I was fairly young…still in my twenties.  When we finally did, I was so incredibly sick for the entire pregnancy that I could barely function.  She was born at 33 weeks (7 weeks premature) and had an in-uterine stroke that left her with brain damage in two quadrants of her brain.  Seven doctors could not determine why it happened….but it did.  Yes, she was premature, but a stroke is not common for a baby at this gestation. 

A year later, I had a miscarriage.  And six months after that I had an ectopic pregnancy that ruptured, requiring emergency surgery and I lost one of my fallopian tubes.  I could have lost my life.  At the time, I chalked it up to bad luck and went on fighting my daughter’s severe autism. 

Then, when my daughter was about 2 ½, I brought her to a kinesiologist who found that she needed methyltetrahyrafolate or folinic acid (NOT folic acid) because she could not break down folic acid.  We started giving it to her but I still was not connecting the dots.

Shortly after that, I got pregnant yet again with my second daughter and was again deathly ill at only 5 weeks.  The kinesiologist saw me right away and found that I too needed methylfolate (L-5MTHF) acid.  He likely saved my second daughter that day.  I started taking it and my sickness was not as bad as it was with the first.  Although I did go into premature labor at 34 weeks, and was required to be on bed rest, she was born at 39 weeks, a very healthy baby.  She later developed sensory processing disorder and was also found to have a MTHFR mutation and needed supplementation with folinic acid.

And years later, I took methylfolate, the broken down form of folic acid when we became pregnant with my third child.  However, I was not very good about taking it when I got sick, and I went into preterm labor at 29 weeks.  I was required to be on bed rest for the rest of my pregnancy.  I delivered a beautiful, healthy boy at 39 weeks.  

With the ease of genetic testing, I have found that my own problem does not lie with MTHFR as it does with my children and husband, but with the DHFR gene of which I have several mutations.  The DHFR gene mutation is directly related to not being able to break down folic acid into L- methylfolate. The DHFR gene is responsible for the first two steps of the transformation of folic acid into folate that the body can use.  Since I have mutations on this gene, I cannot break down folic acid (the synthetic form) at all and need to supplement with methylfolate and eat lots of folate in my diet.  

Most recently, with genetic testing, my husband has been found to have both MTHFR gene mutations (A1298C +/- and C677T +/-) as well and he too needs supplementation with methylfolate.  With my husband affected with MTHFR....and me, affected with DHFR, it is no wonder my kids have problems with breaking down folic acid and detoxifying.  In fact, my daughter with autism has a MTHFR A1298C (+/-) gene mutation, several DHFR (+/-) gene mutations among many other mutations that affect methylation pathways. 

However, we know now that it is possible for a gene mutation to be “turned on” and “turned off” with environmental factors.  So what can you do if you suspect a MTHFR gene mutation?

#1 – Get a geneticist to run the tests to look for a MTHFR gene variation. Or tests for methylation SNPs.  You download your 23andme results into genetic genie to get methylation information. It is only $99 and is a spit test. This is what I did.  LiveWello can also interpret your raw data from the 23andme test for you.  Or, you can order a testing kit through 's site.

*And please be advised that testing levels of folic acid in the blood does NOT tell us anything.  Most ASD kids have normal or high levels of folic acid in the blood.  This is because they cannot break it down.  The only true measure of your child’s folic acid is measured with a spinal tap and that is very invasive.

#2 – Treat the Yeast.  Eat a low sugar diet with more healthy fats like coconut oil, olive oil & avocado and less grains and carbs.  Yeast feeds on sugar & carbs.  Use Grapefruit seed extract (GSE) and Oil of Oregano to kill the yeast, then replenish the good flora with probiotics. Give probiotics at LEAST 4 hours apart from the anti-fungal.

#3 – Take Methyltetrahydrafolate.  I like FolaPro by metagenics.  Often it is very good to supplement MethylB12 in conjunction with Folinic acid because of the folate trap.  Seeking Health makes a great one that dissolves on your tongue so it is great for kids!  .  Some kids with autism will improve significantly when put on a broken down form of folic acid.  My daughter certainly did.

#4 – Consider AC Chelation.  This is extremely low dose chelation that is safe and is given on a time schedule per the half-life of the chelator.  For more information on this, see .   Removing the heavy metals from the body and brain is the only way to possibly reverse the effects of the gene mutation.

#5 - Most importantly....please know that this mutation makes detoxification difficult for the body.  So, go green and keep toxins away!

So, there it is….Will you hear this from your child psychologist?  Likely no.  Will you hear this from your child’s pediatric neurologist?  I sure hope so, but likely not yet.  However, the studies have been coming fast and furious this past year on MTHFR….so hopefully, awareness is on the horizon.

I have included some of them below along with some great sources for information on MTHFR.  Happy Healing!


Many of you have asked how taking methylfolate with methyl B12 has helped my daughter.  This was not an over-night "wow".  It takes some time for the folate to build up to an acceptable level in the body.  We saw slow and steady gains with speech and cognition and socialization.   I see more irritability in her little sister when she does not get her methylfolate and B12 in the morning.


Benjamin Lynch, ND of www.MTHFR.Net

Association of MTHFR Gene Variants with Autism 
Journal of American Physicians and Surgeons Volume 9 Number 4 Winter 2004
the compound 677CT/1298AC
heterozygous mutations were more prevalent in the autistic
population, 25%, than in controls, 15%

MTHFR C677T polymorphism and recurrent early pregnancy loss risk in north Indian population
Reprod Sci. 2012 Feb;19(2):210-5. Epub 2011 Dec 2.

MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations. 

Childs Nerv Syst. 2011 Apr;27(4):665-9. Epub 2010 Nov 27.
The association between first trimester micronutrient intake, MTHFR genotypes, and global DNA methylation in pregnant women.
 J Matern Fetal Neonatal Med. 2012 Feb;25(2):133-7. Epub 2011 Mar 28.
Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: evidence for a common genetic vulnerability?
Brain Behav Immun. 2011 Nov;25(8):1530-43. Epub 2010 Dec 24.


  1. Thank you so much for posting this information. I have a 4 year old son with ASD. My sister-in-law recently told us that she has had several miscarriages because of this and that my husband needs to be tested. Your post made me put 2 and 2 together...and we clearly need to get our son tested as well. I'm curious as to what sort of improvements you saw in your daughter after supplementing.

  2. Hi Kelly. Our son is 6 and he has ASD. He was just tested and also has the gene mutation. We are very green and eat only organic foods to reduce environmental toxins. We have also had great success with GFCFSF and SCD diets (and also with reducing salicylates). Just spoke with our MD today and we will supplement with 5-MTHF. We are already giving injections of methyl B12 with folinic acid. I am also curious as to the improvements you saw in your daughter after starting 5-MTHF. Thanks Kelly! Blogs like yours have helped our family so much!!!

    1. HI! I have updated my entry to include what we saw in our daughter after we added methylfolate & methylB12. Hope this helps. Best wishes to you with your son's recovery! -Kelly

  3. Hi Kelly,
    My story is very long... I'll keep it daughter had sensory issues for 3 years, she is now 6. She went to a specialist in June of 2012 after a major episode... we had an idea of what we thought was going on...her immune system was gone. We got approved for IVIG treatments to bring her back. she is on a ton of diff meds. She is finally coming back after 10 months (6 months of IVIG) treatment. She tested positive for Lyme Disease/ co infections. This was huge to get a diagnosis for her immune issues. However she also tested positive for the MTHFR gene mutation last year when we were searching. The pharmacy was supposed to get us a special compound but they were short on supply and I never followed up with it after several months of waiting. After reading your blog... I realize I need to call and get her treatment going for that as well. She takes an anti-fungal med along with her other medications. Thank you for posting your information, it made me connect some dots that I hadn't done so before. Maybe her sensory issues will have even more improvement with the MTHFR treatment.

  4. I have an 11yr old son that has autism symptoms. Just found out he has the MTHFR gene mutation and his doctor recommended Thorne Methyl Guard. Have you tried that? Did you ever try the injections? You mentioned you liked FolaPro, what kind of dosage do you use?

  5. Great article! And great job getting to the root of this! My son was diagnosed with Sensory Processing Disorder at age 5 and later Aspergers. This year at 15, after a spiraling amount of health issues with his joints, immune system, and muscle atrophy, he was finally diagnosed with one copy of MTHFR. We opted for a broader methylation panel after that and he and I tested +/+ for a cluster of related genes which create deficiencies in b9, b6, b12, CoQ10, magnesium, and Betaine. He's finallt making huge strides. Huge. His body is finally healthy. I've also been following Dr. Randy Jirtle at Duke University and his studies on epigenetics and gene expression. I think you would find them very interesting.

  6. So, as a person with two ASD kids (1 severely affected, 1 mildly affected) who is considering a third child with a different partner than my older children, will the FolaPro and MethylB12 help me (and a possible baby), or does it only help those who already have autism? How much GSE and Oil of Oregano is advisable? How much probiotic? So far my doctors are not helping at all with this. Thanks for your advice!

  7. Don't forget to also AVOID folic acid. I think that's extremely important, too.
    Best of wishes to you and your lovely family!


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