Glucose-galactose malabsorption

Definition

Glucose-galactose malabsorption is characterised by diarrhoea and severe neonatal dehydration. Around 300 cases have been described to date. Moderate glucosuria has also been reported, but fructose absorption is normal. Glucose-galactose malabsorption is caused by a mutation in the SLC5A1 gene, encoding the glucose-sodium cotransporter, SGTL1. The mode of transmission is autosomal recessive. The fatal consequences of this syndrome can be avoided by following a glucose and galactose restricted diet.

Exclusions

• Glucose or galactose intolerance of newborn (5C51.42)

Also indexed as

Nearby in Disorders of carbohydrate absorption or transport

• 5C61.1Maltase-glucoamylase deficiency
• 5C61.2Congenital sucrase-isomaltase deficiency
• 5C61.3Alpha, alpha trehalase deficiency
• 5C61.4Acquired monosaccharide malabsorption
• 5C61.5Disorders of facilitated glucose transport
• 5C61.6Lactose intolerance
• 4B4YOther specified diseases of the immune system
• 4B4ZDiseases of the immune system, unspecified