methylenetetrahydrofolate reductase deficiency

(redirected from homocysteinuria due to deficiency of N(5,10) methylenetetrahydrofolate)

methylenetetrahydrofolate reductase deficiency

An autosomal recessive condition (OMIM:236250) characterised by homocysteinuria, homocysteinaemia, developmental delay, severe mental retardation, perinatal death, psychiatric disturbances and later-onset neurodegeneration.

Molecular pathology
Defects in MTHFR cause methylenetetrahydrofolate reductase deficiency.