Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltase deficiency
Definition
A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.
Also known as congenital sucrase-isomaltase deficiency, congenital sucrose intolerance, CSID, disaccharide intolerance, genetic sucrase-isomaltose malabsorption, sucrase-isomaltase deficiency — per MONDO