Propionic acidemia
ICD-10 Code
E71.121
Propionic acidemia
Definition
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.
Also known as GLYCINEMIA, ketotic, ketotic hyperglycinemia, propionic acidemia, propionic aciduria, propionyl-CoA carboxylase deficiency — per MONDO