5' 10' Methylenetetrahydrofolate Reductase Deficiency

Definition 1

A rare disorder associated with mental retardation, spasticity, and early death. (NCI Thesaurus)

Definition 2

5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. (NICHD)

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