| H01279 | |
| H number | H01279 |
| Name | Isobutyryl-CoA dehydrogenase deficiency |
| Description | Isobutyryl-CoA 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. |
| Category | Inherited metabolic disorder |
| Network | nt06024(H01279) Valine, leucine and isoleucine degradation |
| Gene | ACAD8 [HSA:27034] [KO:K11538] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.DY ICD-10: E71.1 MeSH: C535541 OMIM: 611283 |
| Reference | PMID:12359132 AUTHORS Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J TITLE Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. JOURNAL Mol Genet Metab 77:68-79 (2002) DOI:10.1016/S1096-7192(02)00152-X PMID:16857760 AUTHORS Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS TITLE Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. JOURNAL Pediatr Res 60:315-20 (2006) DOI:10.1203/01.pdr.0000233085.72522.04 |