Catalog

Complete deficiency of methylmalonyl-CoA mutase

No MMS code

Link to WHO Definition

Complete deficiency of methylmalonyl-CoA mutase – http://id.who.int/icd/entity/1741194419

This refers to complete 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.