OBO ID: DOID:14701
Term Name: propionic acidemia Search Ontology:
Synonyms:
  • GLYCINEMIA, KETOTIC
  • ketotic glycinemia
  • KETOTIC HYPERGLYCINEMIA
  • ketotic II glycinemia
  • propionic aciduria
  • propionyl-CoA carboxylase deficiency
Definition: An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. http://en.wikipedia.org/wiki/Propionic_acidemia
References:
  • GARD:467
  • ICD10CM:E71.121
  • MESH:D056693
  • NCI:C85030
  • OMIM:606054
  • SNOMEDCT_US_2020_09_01:69080001
  • UMLS_CUI:C0268579
  • UMLS_CUI:C2717876
Ontology: Human Disease   (DOID:14701)
OTHER propionic acidemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PCCA Propionicacidemia 606054
PCCB Propionicacidemia 606054
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None