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Entry | Name | Description | Category | Pathway | Gene |
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H01279 | Isobutyryl-CoA dehydrogenase deficiency | ... dehydrogenase (IBD) deficiency is a rare inborn error of valine metabolism. The patients present dilated cardiomyopathy, anemia, and carnitine deficiency. Mutations in the ACAD8 gene cause IBD deficiency. | Inherited metabolic disorder | ACAD8 [HSA:27034] [KO:K11538] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |