methylenetetrahydrofolate reductase deficiency

(redirected from MTHFR deficiency, thermolabile type)

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.