Glucose-galactose malabsorption: a case report

Glucose-Galactose Malabsorption (GGM) is one of the rare autosomal recessive disorders of intestinal transport of glucose and galactose/Na+cotransport system (SGLT1) that leads to osmotic watery diarrhea, 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. More than 30 different mutations in this gene have been found to cause abnormalities in the transporter. Because of the wide number of mutations known today, genetic testing for defects is difficult, leaving clinicians to rely on clinical testing, including the glucose or galactose hydrogen breath test as a diagnostic test of choice. Treatment includes the elimination of glucose and galactose from diet. We report a male infant with suspected GGM with acidosis and diarrhea.