Condition: Congenital glucose-galactose malabsorption


rs121912668 in SLC5A1 gene and Congenital glucose-galactose malabsorption PMID 10036327 1999 Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.

PMID 8195156 1994 Structure of the human Na+/glucose cotransporter gene SGLT1.

PMID 2008213 1991 Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.

PMID 11406349 2001 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.

PMID 10036327 1999 We suggest that the compound heterozygote missense mutations G318R and A468V lead to GGM in this patient by defective trafficking of mutant proteins from the endoplasmic reticulum to the plasma membrane.