Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)

Sodium/glucose cotransporter 1 (SLC5A1 aka SGLT1) actively and reversibly transports glucose (Glc) into cells by Na+ cotransport with a Na+ to glucose coupling ratio of 2:1. SLC5A1 is mainly expressed in the microvilli of intestine and kidney and responsible for the absorption of sugars. Overexpressed SLC5A1 has been found in various cancers, possibly playing a role in preventing autophagic cell death by maintaining intracellular glucose levels. Defects in SLC5A1 can cause congenital glucose/galactose malabsorption (GGM; MIM:606824), an autosomal recessive disorder manifesting itself in newborns characterised by severe, life-threatening diarrhea which is usually fatal unless glucose and galactose are removed from the diet.

Summary from Reactome (R-HSA-5656364), read 2026-09-23.