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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Vallaeys, L., Van Biervliet, S., De Bruyn, G. et al. Congenital glucose–galactose malabsorption: a novel deletion within the SLC5A1 gene. Eur J Pediatr 172, 409–411 (2013). https://doi.org/10.1007/s00431-012-1802-9
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DOI: https://doi.org/10.1007/s00431-012-1802-9