# isovaleric acidemia

> organic acidemia disrupting or preventing normal metabolism of the branched-chain amino acid leucine

**Wikidata**: [Q3278042](https://www.wikidata.org/wiki/Q3278042)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Isovaleric_acidemia)  
**Source**: https://4ort.xyz/entity/isovaleric-acidemia


## References

1. [Source](http://www.nanbyou.or.jp/entry/4816)
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Monarch Disease Ontology release 2018-06-29
5. Freebase Data Dumps. 2013
6. UniProt
7. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/05f5d468-2f46-44f3-ba67-c4e708d2954f--2019-05-10T16:00:00)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_05f5d468-2f46-44f3-ba67-c4e708d2954f-2019-05-10T160000.000Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000128928/MONDO_0009475)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)