What is methylenetetrahydrofolate reductase deficiency?

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that is encoded by the MTHFR gene. Mutations in this gene are associated with MTHFR deficiency which may result in intellectual disability, psychosis, weakness, ataxia, spasticity and homocystinuria due to elevated blood levels of homocysteine.

How do members experience methylenetetrahydrofolate reductase deficiency?

*Reports may be affected by other conditions and/or medication side effects. We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition.