Term Name: | isovaleric acidemia |
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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. |
Ontology: | Human Disease [DOID:14753] ( DOID:14753 ) |