Methylation/MTHFR and Children with Autism – The Autism Exchange


<!—Biomedical / Conditions / Methylation/MTHFR —> Methylation/MTHFR and Children with Autism – The Autism Exchange

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Children with autism are poor methylators and if any mutations are found in the five methylation pathway cycles, then critical immune functions are compromised.  The methylation process requires folate in the brain.  Autism Spectrum Disorder (ASD) children have been found to have «Cerebral Folate Deficiency» (CFD) which means an insufficiency of folate in the brain.  If there are defects in the methylation process then speech, language and auditory processing, focus and concentration, social interaction, and reading comprehension can all be affected.  Methylation also repairs DNA, controls homocysteine levels, keeps inflammation in check and recycles key antioxidants.  In addition, methylation increases sulphation for the excretion of heavy metals and elimination of allergies (environmental and immune).  Furthermore, it improves the production of glutathione, which is the master antioxidant that excretes environmental toxins and pathogens out of the body.  All of these functions are important for ASD children.  Methylenetetrahydrofolate reductase (MTHFR) is a gene type and 5MTHF (5 methyltetrahydrofolate) is a type of folate that crosses the blood brain barrier (folic acid cannot), so it can help the brain methylate. Families who are susceptible to autoimmune disorders are also associated with the MTHFR genetic mutation.  There are two prime variants called C677T or A1298C and 98% of ASD children have been found to carry one or two copies in one or both of these mutations according to the study Association of MTHFR Gene Variants with Autism (see Community Library).  The C677T variant is usually associated with heart disease and stroke because of the conversion of homocysteine to methionine.  Many ASD children are unable to make this conversion.  The 1298C variant is associated with chronic illnesses and ASD children found to have this variant may have many chronic illnesses.  Labcorp does a blood test to determine both mutations of MTHFR.  Also, Amy Yasko, PhD, ND has done extensive research in methylation and has a Nutrigenomic Test which tests 30 different genetic mutations in the body including the MTHFR.  Many of these genetic mutations have to do with the neurotransmitters dopamine and serotonin, sulphation, and pathways that generate ammonia – all critical issues for ASD children.  Have a physician suggest the appropriate nutritional supplementation to support the methylation process and MTHFR in order to protect your child’s body from further toxicity, aid in the excretion of toxicity, and improve daily challenges of the ASD child.

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Related Sites

Stillpoint Center for Integrative Medicine (Methylation Issues and Autism)
Description:  Dr. Kurt Woeller D.O. is an integrative medicine physician treating biomedical autism. He is the author of several books for autism including “Autism- the Road to Recovery” and “Methyl-B12 For Autism”. He has done numerous webinars, lectures and radio talks on Methylation and Cerebral Folate Deficiency in autism.

Genetics Research International
Description:  Research article, “Association of MTHFR Gene Variants with Autism”.


Nutrient Power: Heal Your Biochemistry and Heal Your Brain (Natural Healing for ADHD, Autism, Behavior Disorders, Depression, Schizophrenia, and Alzheimer’s) by William J. Walsh, PhD
Description:  Dr. Walsh discusses the role of metal metabolism, methylation and oxidative stress in autism in this book. He truly believes in the power of nutrients to heal the brain and change behaviors.

Feel Good Nutrigenomics: Your Roadmap to Health by Amy Yasko, PhD, ND and Nancy Mullan, MD
Description:  This book is an interactive guide that allows you to take control and chart your own path to health.


University of Florida Department of Pediatrics Division of Genetics and Metabolism
Description:  Methylation testing and newborn screening.

Nutrigenomics (MTHFR) and the Methylation Cycle Testing
Description:  DNA Methylation Pathways with Methylation Pathway Analysis.

Parent Forums/Blogs

Some forums require you to sign in to Yahoo or Facebook to locate forum names.

Forum/Blog Name:  Dr. Amy’s Forum
Description:  A forum about sharing information as well as emotional support.

Consumer Corner

The AEX Directory
Description:  We do not provide medical advice on this site. Please consult your practitioner to discuss treatments for medical conditions. We do have a Directory feature that includes Practitioner Lists as well as Supplement Suppliers, Lab Test Companies, Compounding Pharmacies, and Prescription Drug Lookup. This feature can be accessed by clicking the link above or clicking The AEX Directory icon from our home page or any of the Navigation bar pages.

Community Library

Understanding Cerebral Folate Deficiency and Methylation Imbalance in Autism by Kurt Woeller DO
Description:  Folate is critical for proper brain function as deficiencies have been associated with learning, language, and cognitive imbalances, as well as propensity for seizures. Imbalances in methylation lead to cognitive problems, attention, focusing, language and social interaction issues. Both folate supplements and Methyl-B12 therapy work hand in hand to improve brain function in autism. This presentation explores the general aspects of methylation problems in autism, but goes into detail regarding cerebral folate deficiency as well.

Association of MTHFR Gene Variants with Autism
Description:  A comprehensive study done by Marvin Boris MD, Allan Goldblatt PA, Joseph Galanko PhD, S. Jill James, PhD. Autism is a complex neurodevelopment disorder with numerous possible genetic and environmental influences. The study entails folate, methylation and MTHFR gene.

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