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

Eur J Pediatr. 2013 Mar;172(3):409-11. doi: 10.1007/s00431-012-1802-9. Epub 2012 Jul 29.

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.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence*
  • Female
  • Galactose / metabolism*
  • Genetic Markers
  • Glucose / metabolism*
  • Homozygote
  • Humans
  • Infant, Newborn
  • Malabsorption Syndromes / diagnosis
  • Malabsorption Syndromes / genetics*
  • Malabsorption Syndromes / metabolism
  • Sequence Deletion*
  • Sodium-Glucose Transporter 1 / genetics*

Substances

  • Genetic Markers
  • SLC5A1 protein, human
  • Sodium-Glucose Transporter 1
  • Glucose
  • Galactose