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.
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.
