Article
Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 Oct 2018
Garcia-Etxebarria Koldo, Zheng Tenghao, Bonfiglio Ferdinando, Bujanda Luis, Dlugosz Aldona, Lindberg Greger, Schmidt Peter T, Karling Pontus, Ohlsson Bodil, Simren Magnus, Walter Susanna, Nardone Gerardo, Cuomo Rosario, Usai-Satta Paolo, Galeazzi Francesca, Neri Matteo, Portincasa Piero, Bellini Massimo, Barbara Giovanni, Jonkers Daisy, Eswaran Shanti, Chey William D, Kashyap Purna, Chang Lin, Mayer Emeran A, Wouters Mira M, Boeckxstaens Guy, Camilleri Michael, Franke Andre, D'Amato Mauro
Abstract excerpt
Patients with irritable bowel syndrome (IBS) often associate their symptoms to certain foods. In congenital sucrase-isomaltase deficiency (CSID), recessive mutations in the SI gene (coding for the disaccharidase digesting sucrose and 60% of dietary starch)1 cause clinical features of IBS through colonic accumulation of undigested carbohydrates, triggering bowel symptoms.2 Hence, in a previous study,3 we...
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