Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.

Abstract excerpt

Glucose galactose malabsorption (GGM) is a rare autosomal recessive disorder characterized by life-threatening osmotic diarrhea at infancy. When the intake of the offending sugars (namely, glucose, galactose and lactose) is ceased, the diarrhea promptly stops. Mutations in the SLC5A1 gene, encoding the sodium-glucose co-transporter located in the brush border of enterocytes, have been shown to cause the disease....

Topics

• Carbohydrate Metabolism, Inborn Errors
• Codon
• Exons
• Galactose
• Genotype
• Glucose
• Humans
• Mutation
• Sequence Analysis, DNA
• Sodium-Glucose Transporter 1