DO_rare_slim NCIthesaurus organic acidemia isovaleric acidemia MESH:C538167 An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. ICD10CM:E71.110 MIM:243500 NCI:C98964 UMLS_CUI:C0268575 GARD:465 DOID:14753 Isovaleryl-CoA dehydrogenase deficiency OMIM mapping confirmed by DO. [SN]. disease_ontology SNOMEDCT_US_2025_09_01:87827003 isovaleric acid CoA dehydrogenase deficiency isovaleric aciduria