Search Ontology:
Human Disease

isovaleric acidemia

Term ID
DOID:14753
Synonyms
  • isovaleric acid CoA dehydrogenase deficiency
  • isovaleric aciduria
  • Isovaleryl-CoA dehydrogenase deficiency
Definition
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. http://en.wikipedia.org/wiki/Isovaleric_acidemia
References
  • GARD:465
  • ICD10CM:E71.110
  • MESH:C538167
  • MIM:243500
  • NCI:C98964
  • SNOMEDCT_US_2023_03_01:87827003
  • UMLS_CUI:C0268575
Ontology
Human Disease   ( DOID:14753 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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