Expanding horizons in the presentation, diagnosis, and management of congenital sucrase-isomaltase deficiency in children

Congenital sucrase-isomaltase deficiency (CSID) is a disorder of carbohydrate metabolism with a broad clinical presentation.There is growing literature to support the presence of genetic variants of CSID that may mimic symptoms of irritable bowel syndrome (IBS) in both children and adults.Recognition of the heterogeneous clinical signs and symptoms of CSID and its variants is important in evaluating and treating patients with chronic gastrointestinal complaints.We review the spectrum of CSID, current literature suggesting the overlap between CSID and IBS, methods of diagnostic testing, and treatment approaches.