Our Cases with Sucrase Isomaltase Deficiency

Objectives: Individuals affected with sucrase isomaltase deficiency are unable to digest sucrose-containing foods. Primary symptoms include watery diarrhea, abdominal discomfort and vomiting. Secondary symptoms include retarded growth and malnutrition. Nonspecific symptoms may lead to lengthy delays in diagnosis. The objective of this report is to describe the clinical presentation, diagnosis and treatment of five Turkish children with sucrase isomaltase deficiency. Methods: This is a series of three male and two female patients that presented to the Department of Pediatric Gastroenterology, Hepatology, and Nutrition at Ege University between 2008 and 2014. Results: Patient ages ranged from 6 months to 9 years and symptoms began after the introduction of food or formula into the diet at 1 week to 6 months of age. Presenting symptoms included growth retardation, decreased weight gain, watery diarrhea and vomiting. Four patients were previously misdiagnosed with GERD, celiac disease, lactose intolerance and food allergy but they did not respond to standard treatment. Routine clinical laboratory assessments including hematology, renal, thyroid and hepatic function, renal tubular function were normal. A detailed history revealed the association between the onset of illness and dietary changes leading to the diagnosis of congenital sucrase isomaltase deficiency. All five patients responded to treatment with sacrosidase oral solution. Conclusion: This is the first case series of pediatric patients with sucrase isomaltase deficiency in Turkey. The actual prevalence of the disease in Turkey is unknown, probably due incorrect diagnoses. Four of our patients were previously misdiagnosed with other gastrointestinal disorders leading to delayed treatment. We suggest that sucrase isomaltase deficiency should be considered in pediatric patients presenting with chronic watery diarrhea.