MTHFR Resources

An independent researcher, Richard van Konynenburg, PhD., developed a hypothesis that a genetic defect* which causes MTHFR deficiency might be a fundamental cause of ME/CFS and similar illnesses.  Rich's hypothesis was based on Dr. Amy Yasko's work related to the same genetic defect in autistic children.

Essentially, Rich's hypothesis says that the MTHFR genetic defect impairs the body's methylation pathway and consequently its ability to manufacture glutathione, and that an insufficient level of this essential amino acid compound in the body can result in many metabolic dysfunctions. These dysfunctions manifest in diverse symptoms, including fatigue, cognitive impairment, pain, thyroid dysfunction (low body temperature, intolerance of heat and cold), low cortisol levels, low blood volume, poor elimination of toxins and many others associated with ME/CFS and other chronic but poorly understood illnesses.