Term Name
propionic acidemia
External Reference
Synonyms
ketotic glycinemia, GLYCINEMIA, ketotic, ketotic II glycinemia, ketotic hyperglycinemia, propionic aciduria, propionyl-CoA carboxylase deficiency, propionic acidemia
Definition
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.