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propionic acidemia

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description 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.
Uniprot Description Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.
Disease Ontology Description An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.
Mondo Term and Equivalent IDs
MONDO:0011628:  propionic acidemia
GARD:0000467: 
ICD10:E71.121: 
MESH:D056693: 
NCIT:C85030: 
Orphanet:35: 
SCTID:69080001: 
UMLS:C0268579: