Catalog

Propionic aciduria

No MMS code

Link to WHO Definition

Propionic aciduria – http://id.who.int/icd/entity/1618541953

Propionic acidemia is an organic aciduria due to propionyl-CoA carboxylase deficiency characterised by onset of manifestations soon after birth including ketoacidotic coma, hyperammonemia and convulsions. Apart from acute metabolic decompensation, the major complications are neurological disorders (central grey nuclei), cardiomyopathies, and acute pancreatitis.