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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

GARD:465

ICD10CM:E71.110

MESH:C538167

NCI:C98964

OMIM:243500

SNOMEDCT_US_2020_09_01:87827003

UMLS_CUI:C0268575

Subsets

NCIthesaurus

Synonyms

isovaleric acid CoA dehydrogenase deficiency [EXACT]

isovaleric aciduria [EXACT]

Isovaleryl-CoA dehydrogenase deficiency [EXACT]

Parent Relationships

is_a organic acidemia

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