Perhaps most common, and not listed below, are the highly common, chronic and compounding negative effects of methylation dysfunction that prevent the proper and/or efficient functioning of your body – hormone balance, cognitive function, emotional health, detoxification, energy production, essential gene regulation, immune function, nerve function, enzyme pathways.

Below is a list of researched and established symptoms, syndromes and medical conditions with MTHFR gene mutations.  Extensive research into MTHFR mutations might be considered deficient at this time so we can expect this list to grow.  Adding to the complexity of the condition, MTHFR gene mutations may present with no signs or symptoms or may result in severe and irreversible health conditions.

Updated: December 6, 2012

  • Autism
  • Addictions: smoking, drugs, alcohol
  • Down’s syndrome
  • Miscarriages
  • Pulmonary embolisms
  • Depression in Post-Menopausal Women
  • Schizophrenia
  • Fibromyalgia
  • Chronic Fatigue Syndrome
  • Chemical Sensitivity
  • Parkinson’s
  • Irritable Bowel Syndrome
  • Pre-eclampsia
  • Stroke
  • Spina bifida
  • Esophageal Squamous cell carcinoma
  • Acute Lymphoblastic Leukemia
  • Vascular Dementia
  • Bipolar disorder
  • Colorectal Adenoma
  • Idiopathic male infertility
  • Blood clots
  • Rectal cancer
  • Meningioma
  • Glioma
  • Congenital Heart Defects
  • Infant depression via epigenetic processes caused by maternal depression
  • Deficits in childhood cognitive development
  • Gastric Cancer
  • Migraines with aura
  • Low HDL
  • High homocysteine

To give credit, this list is the result of the great work of Dr. Ben Lynch (, an expert and colleague of ours that specializes in the study, management and education of MTHFR gene mutations.  He served as an inspiration for our interest in MTHFR gene mutation care. Resource:

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