H01071 | |
H number | H01071 |
Name | Acute alcohol sensitivity |
Description | 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. |
Category | Inherited metabolic disorder |
Network | - |
Gene | ALDH2 [HSA:217] [KO:K00128] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 6C40.3 OMIM: 610251 |
Reference | PMID:16792555 AUTHORS Dickson PA, James MR, Heath AC, Montgomery GW, Martin NG, Whitfield JB, Birley AJ TITLE Effects of variation at the ALDH2 locus on alcohol metabolism, sensitivity, consumption, and dependence in Europeans. JOURNAL Alcohol Clin Exp Res 30:1093-100 (2006) DOI:10.1111/j.1530-0277.2006.00128.x PMID:20558439 AUTHORS Chen CH, Sun L, Mochly-Rosen D TITLE Mitochondrial aldehyde dehydrogenase and cardiac diseases. JOURNAL Cardiovasc Res 88:51-7 (2010) DOI:10.1093/cvr/cvq192 |