glucose-galactose malabsorption

A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the

A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3.

Signs and symptoms

• Hypertonic dehydration
• Chronic diarrhea
• Malabsorption
• Failure to thrive
• Glycosuria
• Hyperactive bowel sounds
• Abnormal oral glucose tolerance
• Abdominal distention
• Metabolic acidosis

Also known as: GGM; SGLT1 deficiency; monosaccharide malabsorption