Catalog

Methylmalonic aciduria, vitamin B12 responsive

No MMS code

Link to WHO Definition

Methylmalonic aciduria, vitamin B12 responsive – http://id.who.int/icd/entity/1135248720

Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterised by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).