methylcobalamin deficiency type E

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methylcobalamin deficiency type E

An autosomal recessive condition (OMIM:236270) characterised by a defect in reductive activation of methionine synthase, resulting in megaloblastic anaemia, developmental delay, hypomethioninaemia and hyperhomocysteinaemia, as well as an increased risk of cardiovascular disease and neural tube defects.

Molecular pathology
Defects in MTRR, which encodes an enzyme involved in the reductive regeneration of cobalamin cofactor, cause methylcobalamin deficiency type E.