The Role of MTHFR Gene Mutation in Autism Spectrum Disorders

Jen StaggAll Categories, ChildrenLeave a Comment

Written by Dr. Robin Russell

As a Naturopathic Doctor who specializes in Pediatrics, I have found Naturopathic Medicine to be invaluable in treating Autism Spectrum Disorders.  According to the CDC, 1 in 88 children are on the Autism Spectrum (Autism, Asperger’s, and Pervasive Developmental Disorder-Not Otherwise Specified).  With statistics like this, I am sure you who are reading this may actually know someone on the Autism Spectrum.  Unfortunately, the cause of autism has yet to be found.  Most of us in the medical community can agree at this time that the cause of autism appears to be multi-factorial with genetics and environment being those factors.

Well known Autism Spectrum risk factors that have been widely accepted include advanced age at the time of conception, maternal illness during pregnancy, difficulties during delivery, and lack of folic acid before and after conception.  One of the many naturopathic therapies I use in treating Autism Spectrum is testing and treating for a folic acid gene mutation called the MTHFR (Methylenetetrahydrofolate Reductase) gene mutation.  This gene mutation severely limits the conversion of regular folic acid into activated folic acid which is essential for growth and development.  Folic acid is fundamental in the development of the brain and nervous system as well as many other body processes.  I have been testing for and treating patients with the MTHFR gene mutation for a few years now and have seen some amazing results.  A recent study (Meta-Analysis) that came out in October of 2013 found that the MTHFR gene mutation leads to an increased risk of Autism Spectrum Disorders.  This is a genetic mutation that we can address and treat that may have profound beneficial effects.

When treating patients with the MTHFR gene mutation, it is imperative to supplement them with the activated folic acid.  In addition to the activated folic acid, certain vitamins and minerals must be supplemented as well in order to provide additional support to the folic acid pathway.  This pathway, otherwise known as the Methylation Pathway has numerous jobs including DNA replication, energy production, detoxification, immune function, brain chemistry, etc.).  As important as the MTHFR gene mutation is, it is also important to consider other testing that may be helpful in identifying potential genetic, nutritional, digestive, or brain chemical imbalances to aid in a comprehensive approach to treating Autism Spectrum Disorders.

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