Catalog

Homocystinuria without methylmalonic aciduria

No MMS code

Link to WHO Definition

Homocystinuria without methylmalonic aciduria – http://id.who.int/icd/entity/726186034

Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinaemia.