Search Ontology:
Human Disease

propionic acidemia

Term ID
DOID:14701
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 amino 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_2023_03_01:69080001
  • UMLS_CUI:C0268579
  • UMLS_CUI:C2717876
Ontology
Human Disease   ( DOID:14701 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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