| H01279 | |
| H番号 | H01279 |
| 名称 | イソブチリルCoA脱水素酵素欠損症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06024(H01279) Valine, leucine and isoleucine degradation |
| 病因遺伝子 | ACAD8 [HSA:27034] [KO:K11538] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C50.DY ICD-10: E71.1 MeSH: C535541 OMIM: 611283 |
| 文献 | PMID:12359132 著者 Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J タイトル Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. 雑誌 Mol Genet Metab 77:68-79 (2002) DOI:10.1016/S1096-7192(02)00152-X PMID:16857760 著者 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 タイトル Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. 雑誌 Pediatr Res 60:315-20 (2006) DOI:10.1203/01.pdr.0000233085.72522.04 |