Novel Mutation in the SLC5A1 Gene Causing Glucose-Galactose Malabsorption: First Confirmed Case From Central America

Congenital glucose-galactose malabsorption is a rare cause of life-threatening diet-induced diarrhea in infants. Mutations in the SLC5A1 gene, which encodes for the sodium-dependent glucose transporter, result in large-volume diarrhea due to aberrant glucose and galactose transport across the intestinal brush border. The diagnosis can be made clinically based on the presence of diarrhea soon after birth, evidence of carbohydrate malabsorption in the stool, and resolution of diarrhea with dietary elimination of glucose and galactose. Genetic testing can confirm the diagnosis. Here we report the first confirmed case of glucose-galactose malabsorption in an infant from Central America due to a novel mutation in the SLC5A1 gene. The patient began growing and thriving after being diagnosed and with the correct dietary interventions.