| Metadata | |
|---|---|
| ID | DOID:14753 |
| Name | isovaleric acidemia |
| Definition | An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. http://en.wikipedia.org/wiki/Isovaleric_acidemia |
| Xrefs |
SNOMEDCT_US_2023_03_01:87827003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
isovaleric acid CoA dehydrogenase deficiency [EXACT] isovaleric aciduria [EXACT] Isovaleryl-CoA dehydrogenase deficiency [EXACT] |
| Parent Relationships |
is_a organic acidemia |