| H00925 | |
| H番号 | H00925 |
| 名称 | MHBD 欠損症; HSD10 ミトコンドリア病 |
| 概要 | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a recently described X-linked inborn error in the metabolism of isoleucine. This disorder is characterized by normal early development followed by progressive loss of mental and motor skills. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06024(H00925) Valine, leucine and isoleucine degradation |
| 病因遺伝子 | HSD17B10 [HSA:3028] [KO:K08683] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Syndromic X-linked mental retardation (H00658) is also caused by mutation in the HSD17B10 gene. See also H00658. |
| リンク | ICD-11: 5C52.01 ICD-10: E71.3 MeSH: C536080 OMIM: 300438 |
| 文献 | PMID:16148061 著者 Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A タイトル 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. 雑誌 Pediatr Res 58:488-91 (2005) DOI:10.1203/01.pdr.0000176916.94328.cd |