M Mutlu, M Cakir, Y Aslan

Abstract

Glucose-galactose malabsorption (GGM) is a rare autosomal recessive disorder of intestinal transport of glucose and galactose, leading to watery diarrhoea, dehydration, failure to thrive, or early death. It is caused by mutations in the gene coding for the intestinal brush border of sodium-glucose co-transporter. Treatment includes the elimination of glucose and galactose from diet. We report a female newborn with suspected GGM. She presented with the classical features of the disease including severe recurrent hypernatremia. Her symptoms rapidly improved with fructose based diet.