Catalog

Methylmalonic aciduria - homocystinuria

No MMS code

Link to WHO Definition

Methylmalonic aciduria - homocystinuria – http://id.who.int/icd/entity/1836722766

Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are three complementation classes of cobalamin defects (cblC, cblD and cblF) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD and cblF; see these terms).