ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C61 — Disorders of carbohydrate absorption or transport
5C61.0 — Glucose-galactose malabsorption

ICD-11 5C61.0 — Glucose-galactose malabsorption

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.

The diagnosis includes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Congenital intestinal transport defect #13839