Catalog

Methylmalonic aciduria - homocystinuria type cbl D

No MMS code

Link to WHO Definition

Methylmalonic aciduria - homocystinuria type cbl D – http://id.who.int/icd/entity/615560358

cblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by variable biochemical, neurological and haematological manifestations.