KEGG   DISEASE: H00116Help
Entry
H00116                      Disease                                

Name
Congenital lactase deficiency;
Disaccharide intolerance II
Description
Congenital lactase deficiency is an autosomal recessive disorder caused by enzyme deficiency for metabolizing lactose.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Galactose metabolism
Gene
LCT; lactase [HSA:3938] [KO:K01229]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I
  Title
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
  Journal
Am J Hum Genet 78:339-44 (2006)
Reference
  Authors
Swallow DM
  Title
Genetics of lactase persistence and lactose intolerance.
  Journal
Annu Rev Genet 37:197-219 (2003)

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