SGLT1

Role in the organism:

The SGLT1 gene product is a transport protein located on the surface of intestinal cells that uptake glucose and galactose.

Role in the disorder (state):

Mutations in the SGLT1 gene that abolish expression or condition the production of a non-functional version of this protein prevent glucose and galactose uptake from the intestine. Sugar accumulation in the intestinal lumen causes water to be drawn from the surrounding cells, resulting in severe diarrhea. This rare inherited condition, known as glucose/galactose malabsorption, leads to rapid dehydration and death in newborns if not diagnosed and treated appropriately. Treatment includes the removal of sucrose (containing two glucose residues) and lactose (milk sugar containing two galactose residues) from the diet and their substitution with fructose (fruit sugar).