MTHFR, Folic Acid, and Mitochondrial Disease… is there a link?

We are all about Acronyms these days here at Babyfoodsteps! So I am sure you are wondering what the heck this one stands for… MTHFR … believe me it is much easier to say MTHFR than the “Methylenetetrahydrofolate reductase” that it stands for!

NO! NO! NO! you say… not another biochemistry lesson.  In the interest of time and sleep deprivation (Lady A has not slept much in the last month and a half, once we figure out why not, I will be sure to share what we learn, but in the meantime we are all just trying to sleep when we can)… here is the SHORT version of why MTHFR may be important to many more of us, but specifically those in the MITO and AUTISM communities.

MTHFR is an enzyme and a gene (of the same name). This enzyme (and gene) are responsible for

converting 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine

Here is what that looks like visually see the light baby blue box in the middle of the diagram below with the letters MTHFR. Now look to the left…see the black circle labled KREBS CYCLE (also known as the Citric Acid Cycle)?? Guess what …this is the entry into “MITO LAND”…by which OXPHOS and electron transport chain is fueled.. soo if you have an issue with your MTHFR gene, and for that matter any other gene (all the other colored boxes in the diagram) in your methylation cycle… could it have an effect down-stream on your mitochondria?? YOU BETCHA! Folate conversion also affects Glutathione {G} production (you can read this post for more info on why {G} is so important), it had been shown that mitochondrial patients (and autistic children) are low in {G}, meaning that their ability to detoxify certain environmental stressors (such as chemicals, food additives, bacteria and medications) is low, meaning that these stressors can cause more damage the longer they hang around inside the body and the cell- esp. to your mitochondria. SO LOW FOLATE= LOW {G} PRODUCTION= LOW DETOXIFICATION=HIGHER TOXIC LOAD= MORE MITOCHONDRIAL DAMAGE  (you can see how this can start a cycle that can be destructive)

In a nutshell if you have one or more of the MTHFR polymorphisms (or Gene changes: 677T and 1298C are 2 of the most studied and most common mutations) then you are not processing FOLATE correctly in your body. FOLATE is crucial for your body to function and converting homocysteine to metathione is crucial because high levels of homocysteine can build up and have been implicated in HEART DISEASE.  Processing FOLATE is also VERY cruical during pregnancy as it is needed for a baby’s development, particularly when the spinal column (neural tube) is formed. inability to process FOLATE (or folic acid) or low levels of FOLATE in a mother’s diet can result in birth defects called neural tube defects such as spinabifada. So individuals who have any family history of HEART DISEASE, PREGNANCY LOSS/MISCARRIAGE, OR SPINABIFADA…may want to “dig further” into their genetics and family medical history to see if MTHFR may be at the root of the issue.


FOLIC ACID is not the same thing as FOLATE!! Folic Acid (also called pteroylmonoglutamic acid) is SYNTHETIC and not found in nature… if you have the MTHFR mutation you cannot efficiently process and “methylate” folic acid to a useable form that your body can use (5MTHF)…. therefore you could take all the pre-natal (folic acid fortified) vitamins or multivitamins in the world…. but if your body cannot process/convert them correctly then your HEALTH is gaining LITTLE to NO benefit from them! So just adding more FOLIC acid (from fortified processed enriched foods) to your diet is NOT the cure… getting FOLATE in its natural form from foods(dark leafy greens, citrus, legumes, etc.) and supplementing the rest with a BIO ACTIVE form of FOLATE is HELPFUL.

If you would like an amazing over view of ALL the things that a defective MTHFR gene can cause, listen here to Dr. Ben Lynch of and see for yourself the implications:

And if you are a VISUAL person, like I am, you will love these MIND MAPS that summarize MTHFR, HEALTH PROBLEMS HERE and MTHFR OVERVIEW HERE

AUTISM and MTHFR- is it because of the FOLIC ACID FORTIFIED foods?

A GREAT summary of FOLATE, AUTISM and MITO Research (including Cerebral Folate Autoantibody research)

An organization which is supporting CEREBRAL FOLATE Research.


So..could it be this be another reason why some mito patients and autistic children improve when placed on a Gluten Free and Casein Free diet… because 1) Nearly all GLUTEN containing products in the USA are FORTIFIED with Folic Acid which individuals with MTHFR defects cannot process efficiently and 2) Because Milk products (containing Casein) have been shown to up regulate folate receptor autoimmunity (in plain English- milk can be BAD for you if you have issues with processing folate or have an autoimmunity to folate.)  So by removing these 2 from the diet, it takes “stressors and blockers” off the folate cycle and allows more FOLATE to be processed correctly which is crucial for neurological development.  So in other words… is FOLIC ACID as artificial and harmful to some people’s bodies as Red.40, Aspartame, or MSG? Will we soon see labels that say NO Artificial Folic Acid,  or GREAT FOR HEART HEALTH- CONTAINS REAL FOLATE ?  Maybe, Maybe not?

Here is a journal article that discusses why folic acid fortification may not benefit everyone.

So how do you know if you have an MTHFR Mutation??

Quest Diagnostics has this lab test available that your pediatrician or general Practitioner could order HERE.

Also Spectracell Labs has it available (I have heard for $150 out of pocket through some providers) HERE.

And here is an overview of OTHER LAB TESTING that can be done to access your MTHFR  health status HERE.

HERE is one insurance companies overview of research associated with Homocysteine testing and MTHFR mutations.

The only TRUE way to diagnose CEREBRAL FOLATE DEFICIENCY is through a spinal tap/lumbar puncture, which may be suggested in certain clinical circumstances like this one.

Ok so that was not so SHORT… but I will stop for now and continue once I have more 3 hours of sleep under my belt!


About Empowered Advocacy Pediatric Patient Advocate
This entry was posted in Allergies, Autism, Genetics, Medical, Mitochondrial Disease and tagged , , , , , . Bookmark the permalink.

23 Responses to MTHFR, Folic Acid, and Mitochondrial Disease… is there a link?

  1. seventhvoice says:

    Great post. Thank you!

  2. Kristi, you are amazing! I am finally getting a chance to digest all of this information and think you are on to something very significant here. I think my daughter has gotten worse since she’s started eating more of the grocery store bread (containing all of the additives). Time to bust out the bread machine and start experimenting with some GF options…

  3. hollytietjen says:

    Your fortification hypothesis is fascinating. I am always very skeptical of the things our federal government decide to add to the food supply. What you are saying makes a lot of sense. You also do a really good job of explaining MTHFR. Thanks for sharing!

  4. hollytietjen says:

    Your fortification hypothesis is fascinating. I am always very skeptical of the things our federal government decide to add to the food supply. What you are saying makes a lot of sense. You also do a really good job of explaining MTHFR. Thanks for sharing!

  5. Pingback: Most Popular Babyfoodsteps Posts ~ 2012 | Taking Baby{food}Steps…

  6. Margie Luppens says:

    I was told I have a double MTHFR mutation. Before my doctor put me on cerefolin Nac, I caught all the flus and viruses around. Now I never come down sick.

    • that is fantastic news!!

    • Susan Laney says:

      I, also have the double mutation of C677T. I am a “young”, healthy 62 year old female, who up until starting Cerefolin about 18 months ago, have had numerous healthy problems including hypothyroid (that didn’t respond to meds), poly-cystic ovarian disease, and other strange maladies, including MGUS (precursor to multiple myeloma. I am now 100% healthy according to my last physical. BP so low my doctor said I would live to be 100! Thyroid working normally, also. I have lost 20 pouds (5’7″, 122 lbs now) and have he energy of a 20 year old. I walk at least 1 mile, or more, each day. Another bonus is the return of my sex drive. I credit Cerefolin with the turn around, as well as my avoidance of foods with added folic acid in them! I also drink only spring water and plan to get a chlorine filter for our shower. I put epsom salts in my bath water to detoxify.

  7. Jen Knox says:

    Can you recommend a bio active form of folate for supplementation? It seems folic acid is available everywhere but I’ve never seen, that I can remember, a folate supplement among the others. This is the very first time I have heard that there is a difference between folic acid and folate and what this could mean for autism. So interesting!

    • an over the counter form is called metfolin and I have seen it in vitamin shops, a perscription form is called folinic acid and is perscribed as Leucovorin
      hope that helps!

      • Jen Knox says:

        It does help! Thanks so much!

      • Anonymous says:

        L-methylfolate is what you need. Anything over 1mg of l-methylfolate is only available with prescription. Be careful of OTC Folate. Metafolin L-methylfolate contains only the S isomer of 5-MTHF and has been shown to be the only form of folate to be able to cross the blood-brain barrier. OTC L-methylfolate has the D isomer and carries more bad than good.

    • says:

      “Anonymous'” comment doesn’t make sense. Metafolin IS an OTC form of methylfolate

  8. Debbie says:

    This is a great explaination! Thanks! I was hoping to be able to print out the “mind map,” but couldn’t. It would be great to share with doctors, etc. who minimize the issues or don’t believe they exist at all. Is there a printable version somewhere that you know of?

  9. Pingback: Snips about SNPs ~ MTHFR | Taking Baby{food}Steps…

  10. Kath says:

    I just found out that I have 2 copies of the a1298c gene. I was diagnosed with Lyme 9 yrs ago after being misdiagnosed for 8 years previously as having Lupus. I started seeing a Naturopath 8 months ago. Best thing I ever did! She has me on NT Factor (among other supplements). It actually repairs the mitochondria cells. I went from using a cane and being asleep about 80% of the time to doing daily exercise, and actually functioning again. While I am not 100%, I’d have to say that I am at least 60% better than I was. I had 2 brain cysts and a lesion. The last MRI showed a major improvement. No cysts, and the lesion went from 8mm to 6 mm. To me that’s amazing! My cognitive issues have improved tremendously!

    I am going to post the info I found about it- an ILADS conference regarding NT Factor, and an article about mitochondria and lipid replacement. I hope that’s okay.

    Since I just found out about the MTHFR gene, I was so happy to find this site explaining the mitachondria and MTHFR. It explains why I am doing so much better. 3 years of treating Lyme with an IV never helped this much!

    This tells about it:
    These are the ILADS videos about it:

    It’s more about repairing and helping with inflammation.

  11. evy says:

    Well written 🙂

    23andme is the cheapest MTHFR testing available (and will give you a heap of additional info besides) …

    This link explains the different options for the mthfr test (and with 2 links included for how to DECIPHER the 23andme results if one chooses to go that-cheapest-route).

  12. Pingback: It’s Difficult To Be Perfect: Things To Avoid With MTHFR • MTHFR Living

  13. Pingback: It’s NO Vaccident! | Taking Baby{food}Steps…

  14. Sam Evans Germany says:

    I am a midwife and biology student(med school) I agree with the so much. I have been looking at this for years because i suffer from Gluten allergy and my child has AS. I hope to do research eventually.

  15. Pingback: Autism to Depression: The Folate Connection | Taking Baby{food}Steps…

What do you Think? Comment here!

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s