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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. |