Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms Ketotic hyperglycinemia Acyduria propionowa Hiperglicynemia ketonowa Niedobór karboksylazy propionylo-CoA Propionic aciduria Propionyl-CoA carboxylase deficiency ORPHA code 35 OMIM code 606054 ICD10 code E71.1 ICD11 code 5C50.E0 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl