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Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

Abstract

Cotransporters harness ion gradients to drive ‘active’ transport of substrates into cells, for example, the Na+/glucose cotransporter (SGLT1) couples sugar transport to Na+ gradients across the intestinal brush border1. Glucose-Galactose Malabsorption (GGM) is caused by a defect in SGLT1. The phenotype is neonatal onset of diarrhea that results in death unless these sugars are removed from the diet2–4. Previously we showed that two sisters with GGM had a missense mutation in the SGLT1 gene5. The gene has now been screened in 30 new patients, and a heterologous expression system has been used to link the mutations to the phenotype.

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