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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. Access through your institution Buy or subscribe This is a preview of subscription content, access via
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ABSORPTION BY REGULATING ION TRANSPORT Article Open access 22 September 2020 STRUCTURE AND MECHANISM OF THE SGLT FAMILY OF GLUCOSE TRANSPORTERS Article 08 December 2021 STRUCTURE AND
THIAZIDE INHIBITION MECHANISM OF THE HUMAN NA–CL COTRANSPORTER Article 15 February 2023 REFERENCES * Wright, E.M., Hirayama, B.A., Loo, D.D.F., Turk, E & Hager, K. Intestinal Sugar
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and consequences. _Hum. Genet._ 90, 41–54 (1992). Article CAS Google Scholar Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Departments of Physiology and Pediatrics,
UCLA School of Medicine, Los Angeles, California, 90095-1751, USA Martín G. Martín, Eric Turk, M. Pilar Lostao, Cynthia Kerner & Ernest M. Wright Authors * Martín G. Martín View author
publications You can also search for this author inPubMed Google Scholar * Eric Turk View author publications You can also search for this author inPubMed Google Scholar * M. Pilar Lostao
View author publications You can also search for this author inPubMed Google Scholar * Cynthia Kerner View author publications You can also search for this author inPubMed Google Scholar *
Ernest M. Wright View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE
Martín, M., Turk, E., Lostao, M. _et al._ Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. _Nat Genet_ 12, 216–220 (1996).
https://doi.org/10.1038/ng0296-216 Download citation * Received: 11 September 1995 * Accepted: 22 November 1995 * Issue Date: 01 February 1996 * DOI: https://doi.org/10.1038/ng0296-216 SHARE
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