Catalog

Methylmalonic aciduria - homocystinuria type cbl C

No MMS code

Link to WHO Definition

Methylmalonic aciduria - homocystinuria type cbl C – http://id.who.int/icd/entity/1633413170

cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.