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 |