| H01266 | |
| H number | H01266 |
| Name | Hypercarotenemia and vitamin A deficiency |
| Description | Hypercarotenemia and vitamin A deficiency is caused by mutation in the CMO1(BCMO1) gene, that catalyzes the first step in the conversion of dietary provitamin A carotenoids to vitamin A. Vitamin A is essential for normal embryonic development as well as normal physiological functions. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | BCMO1 [HSA:53630] [KO:K00515] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5B55 5B90.1 ICD-10: E50 E67.1 MeSH: C567296 OMIM: 115300 |
| Reference | PMID:17951468 AUTHORS Lindqvist A, Sharvill J, Sharvill DE, Andersson S TITLE Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A. JOURNAL J Nutr 137:2346-50 (2007) DOI:10.1093/jn/137.11.2346 |