KEGG   DISEASE: Hypercarotenemia and vitamin A deficiency
Entry
H01266                      Disease                                

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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01266  Hypercarotenemia and vitamin A deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Nutritional disorders
   Undernutrition
    5B55  Vitamin A deficiency
     H01266  Hypercarotenemia and vitamin A deficiency
   Overweight, obesity or specific nutrient excesses
    Certain specified nutrient excesses
     5B90  Vitamin excesses
      H01266  Hypercarotenemia and vitamin A deficiency
Pathway
hsa00830  Retinol metabolism
Gene
BCMO1 [HSA:53630] [KO:K00515]
Other DBs
ICD-11: 5B55 5B90.1
ICD-10: E50 E67.1
MeSH: C567296
OMIM: 115300
Reference
  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
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