propionic acidemia (DOID:14701)
Alliance: disease page
Synonyms: GLYCINEMIA, KETOTIC; ketotic glycinemia; KETOTIC HYPERGLYCINEMIA; ketotic II glycinemia; propionic aciduria; propionyl-CoA carboxylase deficiency
Alt IDs: OMIM:606054, DOID:14706, ICD10CM:E71.121, MESH:D056693, NCI:C85030, UMLS_CUI:C0268579, UMLS_CUI:C2717876
Definition: An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.