Glucose-galactose malabsorption is an autosomal recessive condition, thought to be a result of defective transport of glucose and galactose across the intestinal mucosa.
Presentation is with the affected newborn developing severe diarrhoea, abdominal distention and discomfort after the first feeding of glucose containing food or drink.
Symptoms are not relieved by formulas containing sucrose or maltose. The symptoms resolve when a carbohydrate-free diet is instituted that is fortified with fructose. There is a normal rise in blood glucose concentration after the oral administration of fructose but not after the ingestion of galactose, glucose or lactose.
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