You may be wondering, “What in the world is MTHFR?!” It almost makes you want to say, “Pat, I’d like to buy a vowel…”  MTHFR stands for Methylenetetrahydrofolate Reductase. That’s a mouthful, I know. MTHFR is a gene in our body that acts like a light switch, turning various processes on or off. One of MTHFR’s key roles in our bodies is to take folate and methylate and turn it into methylfolate (1). While this process makes perfect sense to chemists and nutritionists, for everyone else MTHFR’s real importance is the vitally important role it plays in our bodies.

Decreased function of the MTHFR gene has been linked to various medical conditions, such as neurological and cardiovascular disorders along with diabetes and mental dysfunctions (2). Recently, a link has been discovered between MTHFR gene mutations and autism. 98% of children affected by autism have a mutation of the MTHFR gene, which hinders the body’s ability to transform folate into methylfolate (1). Having an alteration of the MTHFR gene can increase our chances for being low or deficient in several key antioxidants, including Glutathione and Cysteine. Having low levels of these antioxidants can make us less tolerant to stress and toxins, ultimately affecting the immune system. A positive link has been found to show that when autistic children with a MTHFR mutation received vitamin and mineral supplementations significant improvements were seen in behavior and receptivity. The most common form of treatment for a MTHFR mutation is supplementing with methylfolate, which can assist in re-balancing the methylation process. Supplementing with Acetyl Glutathione would be a wise choice, too, since those with the MTHFR mutation have a challenging time making an adequate amount of this antioxidant. By supplementing with both Acetyl Glutathione and methylfolate, the originating cause of the methylation challenge can be addressed. MTHFR may only be one small gene, but when it is switched off a big impact is made in our bodies. Given that such a large number of children with autism may have a MTHFR mutation, it would be worth exploring to see if supplementation can help positively impact behaviors and receptivity.


  1. Glutathione Pro.  MTHFR and Autism. Accessed on 2/6/2017
  2. Spectracell Labs, Inc. “Why Test YOUR Micronutrient Levels & MTHFR?” 2013 July 10.  Accessed on 2/6/2017.
  3. Adams JB, Audhya T, McDonough-Means S, et al. Effect of a vitamin/mineral supplement on children and adults with autism. BMC Pediatrics. 2011;11:111. doi:10.1186/1471-2431-11-111.

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