Isobutyryl-CoA dehydrogenase, mitochondrial (ACAD8)

Isobutyryl-CoA dehydrogenase, mitochondrial (encoded by the ACAD8 gene), is an enzyme of the acyl-CoA dehydrogenase family that catalyzes the dehydrogenation of isobutyryl-CoA in the catabolic pathway of the branched-chain amino acid valine[1][2][3][4]. The protein is localized in mitochondria and plays a central role in intermediary metabolism—specifically in converting isobutyryl-CoA to methacryloyl-CoA at the third step of valine breakdown. Mutations in the ACAD8 gene cause isobutyryl-CoA dehydrogenase deficiency, a rare autosomal recessive disorder often detected by elevated C4-acylcarnitine in newborn blood screening. The clinical phenotype is highly variable: most individuals show no symptoms, but some exhibit mild growth/developmental delay, hepatic dysfunction, cold intolerance, or in rare cases, cardiomyopathy. ACAD8 deficiency is typically managed by metabolic monitoring and, if symptomatic, dietary intervention[1][2][3][4].

Other names

Isobutyryl-CoA dehydrogenase, mitochondrialACAD8ACAD-8ARC42IBDIBDHactivator-recruited cofactor 42 kDa componentacyl-CoA dehydrogenase family member 8

Not applicable (no known drugs targeting ACAD8 directly). - Enzyme deficiency: therapeutic approaches may involve dietary management and monitoring, not targeted drugs.