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Title
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Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene
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Author
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Abstract
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| 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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Language
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English
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Source (journal)
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European journal of pediatrics. - Berlin, 1975, currens
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Publication
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Berlin
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2013
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ISSN
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0340-6199
[print]
1432-1076
[online]
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DOI
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10.1007/S00431-012-1802-9
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Volume/pages
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172
:3
(2013)
, p. 409-411
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ISI
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000315485200019
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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