Catalog

Methylmalonic aciduria, vitamin B12 unresponsive

No MMS code

Link to WHO Definition

Methylmalonic aciduria, vitamin B12 unresponsive – http://id.who.int/icd/entity/1982871374

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterised by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).