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isovaleric acidemia
Summary
- Synonym
-
- Isovaleryl-CoA dehydrogenase deficiency
- isovaleric acid CoA dehydrogenase deficiency
- isovaleric aciduria
- Definition
- An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
- Super Class
- organic acidemia
External Links
- Disease Ontology
- DOID:14753
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- WikiPathways (from TogoID)
