methylenetetrahydrofolate reductase deficiency
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.