Publication
Title
Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene
Author
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.
Language
English
Source (journal)
European journal of pediatrics. - Berlin
Publication
Berlin : 2013
ISSN
0340-6199
Volume/pages
172:3(2013), p. 409-411
ISI
000315485200019
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 30.04.2013
Last edited 16.11.2017
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