5' 10' Methylenetetrahydrofolate Reductase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A rare disorder associated with mental retardation, spasticity, and early death.

**Synonyms:** - 5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR) - 5,10-Methylenetetrahydrofolate Reductase Deficiency - MTHFR