Congenital Sucrase-Isomaltase Deficiency Report

Congenital Sucrase-Isomaltase DeficiencyCongenital sucrase-isomaltase deficiency is caused by a congenital enzyme deficiency that prevents the correct metabolism of two disaccharides, sucrose and maltose. This condition, which manifests itself with the introduction of starch-containing foods at weaning, causes digestive problems, diarrhea, abdominal pain and growth failure linked to intestinal malabsorption. The only gene involved is the one that codes for the sucrase-isomerase enzyme.1 gene analyzed genes analyzed It is recommended if: This report is indicated for children who, during the weaning phase, present signs and symptoms compatible with this enzyme deficiency, which presents with osmotic-fermatative diarrhea associated with vomiting, flatulence and abdominal pain. List of main conditions: Sucrase-isomaltase deficiency, congenital