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01-03-2013 | Case Report

Congenital glucose–galactose malabsorption: a novel deletion within the SLC5A1 gene

Authors: L. Vallaeys, S. Van Biervliet, G. De Bruyn, B. Loeys, A. S. Moring, E. Van Deynse, L. Cornette

Published in: European Journal of Pediatrics | Issue 3/2013

Abstract

Glucose–galactose malabsorption (GGM) is an autosomal recessive disease caused by mutations in the Na⁺/glucose cotransporter gene SLC5A1 (OMIM 182380, phenotype number 606824). Patients with GGM present with neonatal onset of severe life-threatening diarrhoea and dehydration. We describe a 5-day-old girl with the typical clinical course of GGM. Our clinical diagnosis was confirmed by an abnormal chromatography of the stool and normal small bowel biopsies. Mutation analysis revealed a novel, homozygous deletion within exon 10 of the SLC5A1 gene, i.e. c.1107_1109 del AGT.

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Title: Congenital glucose–galactose malabsorption: a novel deletion within the SLC5A1 gene
Authors: L. Vallaeys
S. Van Biervliet
G. De Bruyn
B. Loeys
A. S. Moring
E. Van Deynse
L. Cornette
Publication date: 01-03-2013
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 3/2013
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-012-1802-9

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Springer Medicine

Congenital glucose–galactose malabsorption: a novel deletion within the SLC5A1 gene

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

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