KEGG   DISEASE: H01261Help
Entry
H01261                      Disease                                

Name
Congenital glucose-galactose malabsorption (GGM)
Description
Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder that is due to mutations in the gene coding for the sodium-glucose cotransporter (SGLT1/SLC5A1). GGM is characterized by neonatal onset of watery and acidic diarrhea, which becomes fatal within a few weeks unless glucose and galactose containing nutrients are removed from the diet.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Carbohydrate digestion and absorption
Gene
SLC5A1 [HSA:6523] [KO:K14158]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Lam JT, Martin MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM
  Title
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking  defects.
  Journal
Biochim Biophys Acta 1453:297-303 (1999)
Reference
  Authors
Kasahara M, Maeda M, Hayashi S, Mori Y, Abe T
  Title
A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.
  Journal
Biochim Biophys Acta 1536:141-7 (2001)

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