Glucose-galactose malabsorbtion syndrome presenting as congenital diarrhea

Abstract

We describe the clinical history, diagnostic evaluation, and management of an infant who had congenital Glucose Galactose Malabsorption (GGM), a rare disorder thought to be inherited as an autosomol recessive trait. This infant experienced persistant diarrhea and hypernatemic dehydration during the first months of life and then renal stone on three months follow-up. Diagnosis is based on oral glucose tolerance test, stool reducing substances and rule out other diseases with use of laboratory investigations, small-bowel biopsy, and histology. Parentral education about dietary managemented with fructose based formula and solid food feedings was important component of this patients treatment.