propionic acidemia https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/9663 https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia https://www.malacards.org/card/propionic_acidemia GLYCINEMIA, ketotic DOID:14701 Propionicacidemia prop NANDO:2200492 MONDO:0011628 ketotic hyperglycinemia NORD:714 propionyl-CoA carboxylase deficiency NCIT:C85030 propionic aciduria GARD:0000467 Orphanet:35 UMLS:C0268579 NANDO:1200792 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. SCTID:69080001 MESH:D056693 MEDGEN:75694 propionic acidemia OMIM:606054 Propionic acidemia (PA) is an organic acidemia with a spectrum of clinical severity. In its most severe form, PA presents in the newborn period with poor feeding, lethargy, vomiting, hyperammonemia, metabolic acidosis, seizures, and coma. Without diagnosis and appropriate management, neonatal-onset PA can be fatal. Individuals with late-onset PA may be asymptomatic but can experience a metabolic crisis when under catabolic stress or can develop multi-organ complications over time. Rarely, PA presents as isolated cardiomyopathy (Galarreta Aima et al, 2024, PMID:22593918) ICD10CM:E71.121 classic organic aciduria