| H01071 | |
| H番号 | H01071 |
| 名称 | アルコール過敏症 |
| 概要 | Aldehyde dehydrogenases (ALDHs) are important enzymes that eliminate toxic aldehydes by catalysing their oxidation to non-reactive acids. It is reported that a deficiency in the ALDH2 is associated with the alcohol flush reaction. More than 40% of the East Asians population carries a common ALDH2 mutant allele, which results in a dramatic reduction in the enzymatic activity when compared with the wild-type allele. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | ALDH2 [HSA:217] [KO:K00128] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 6C40.3 OMIM: 610251 |
| 文献 | PMID:16792555 著者 Dickson PA, James MR, Heath AC, Montgomery GW, Martin NG, Whitfield JB, Birley AJ タイトル Effects of variation at the ALDH2 locus on alcohol metabolism, sensitivity, consumption, and dependence in Europeans. 雑誌 Alcohol Clin Exp Res 30:1093-100 (2006) DOI:10.1111/j.1530-0277.2006.00128.x PMID:20558439 著者 Chen CH, Sun L, Mochly-Rosen D タイトル Mitochondrial aldehyde dehydrogenase and cardiac diseases. 雑誌 Cardiovasc Res 88:51-7 (2010) DOI:10.1093/cvr/cvq192 |