Catalog

Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency

No MMS code

Link to WHO Definition

Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency – http://id.who.int/icd/entity/1464831299

This refers to deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function. This diagnosis is with sepiapterin reductase deficiency.