title: Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.
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.
authors: Department of Neonatology, AZ Sint-Jan Brugge-Oostende AV, Ruddershove 10, 8000, Bruges, Belgium.
authors: L
authors: L
authors: Vallaeys
authors: S
authors: S
authors: Van Biervliet
authors: G
authors: G
authors: De Bruyn
authors: B
authors: B
authors: Loeys
authors: A S
authors: AS
authors: Moring
authors: E
authors: E
authors: Van Deynse
authors: L
authors: L
authors: Cornette
mesh_terms: D001483:Base Sequence; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005819:Genetic Markers; D005947:Glucose / Q000378:metabolism*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D017384:Sequence Deletion; D051269:Sodium-Glucose Transporter 1 / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C495674:SLC5A1 protein, human; D051269:Sodium-Glucose Transporter 1; D005947:Glucose; D005690:Galactose