Version: 8.0.0
Date: Tue Jan 28 2025
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isovaleric acidemia
DOID:14753
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
isovaleric acidemia
Definition
An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
[1]
Synonyms
isovaleric acid CoA dehydrogenase deficiency
isovaleric aciduria
Show All 3
Cross References
GARD:465
ICD10CM:E71.110
Show All 7
Parent Terms
organic acidemia
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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