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
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models