Methylenetetrahydrofolate reductase deficiency [Supplementary Concept]

A common hereditary defect of folate metabolism due to autosomal recessive mutations in the MTHFR gene. The phenotypic spectrum ranges from severe neurologic deterioration (DEVELOPMENTAL DELAY; SEIZURES; ATAXIA; STROKE) and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified. OMIM: 236250

Date introduced: August 25, 2010

MeSH Unique ID: C537357

Heading Mapped to:

• Homocystinuria
• Muscle Spasticity
• Psychotic Disorders
• Methylenetetrahydrofolate Reductase (NADPH2)/deficiency

Entry Terms:

• MTHFR deficiency