Methylation/MTHFR and Children with Autism


Methylation/MTHFR and Children with Autism

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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

Holistic Health International (Methylation and MTHFR)
Description:  Dr. Amy Yasko PhD, ND, and her website on recovering autistic children provide an enormous amount of information on Autism Pathways to Recovery, which includes Nutrigenomics (MTHFR) and Methylation.

Nancy Mullan, MD
Description:  MTHFR genetic medicine expert.

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

MTHFR Mutation
Description:  MTHFR is the genetic mutation that affects 98% of children with autism. Dr. Ben Lynch is one of the leading researchers on MTHFR with effective remedies and powerful information for families.

Understanding Methylation
Description:  An article by Dr. David Jockers.

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.


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.

The Methyl Group: What it can Do for You; 3 Mistakes Not to Make with MTHFR+
Description:  Nancy Mullan, MD, an expert in methylation and genetic medicine, has this e-book on her website for families to download and read. There are three very comprehensible chapters with easy-to-read information about MTHFR and methyl groups.

MTHFR Basics by Benjamin Lynch
Description:  Dr. Lynch describes the fundamentals of MTHFR as well as effective methods to improve your health.

Cutting-Edge Therapies for Autism: Fully Updated Edition by Tony Lyons & Ken Siri
Description:  Dan Rossignol, MD, has written the chapter «Cerebral Folate Deficiency in Autism Spectrum Disorders» in the book «Cutting-Edge Therapies for Autism». CFD has been found to be a prevalent deficiency in children with autism spectrum disorders. Dr. Rossignol discusses the symptoms and the treatment protocol; CFD has the potential to be reversed with treatment.


The Latest In Biomedical: Folic Acid and MTHFR
Description:  Find out how folic acid and MTHFR can affect your child’s health (and yours) and what you can do about it!

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.

Doctor’s Data Laboratory: Methylation Profile; Plasma
Description:  Functional Assessment of SNPs (Single-nucleotide polymorphism) MTHFR, CBS, MS etc. and a methylation evaluation.

Parent Forums/Blogs

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

Forum/Blog Name:  Important Breakthrough Folate in Autism
Description:  Dr. Dach explains how children with autism have disrupted folate metabolism due to antibodies to the folate receptors. His blog explains the importance of folate, the MTHFR genetic mutation and autism.

Forum/Blog Name:  Autism Road to Recovery
Description:  This blog is a mother’s journey with her three children, one with autism, and how addressing the MTHFR genetic mutation and folate deficiency issues made a significant difference in her daughter’s recovery from autism.

Forum/Blog Name:  Methyl-Nation: Healing Together
Description:  This Facebook group is based on the blog Methyl-Nation and it provides inspiration and information to those with methylation issues.

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