Doğan Barut, Ezgi Kıran Taşcı, Bora Kunay, Burcu Güven, Betül Aksoy, Yeliz Çağan Appak, Miray Karakoyun, Funda Çetin, Ayşe Selimoğlu, Huseyin Onay, Sema Aydoğdu
BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase ( SI ) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations. METHODS: The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and 2022 and had undergone genetic testing of the SI gene considering CSID due to diet-related complaints...
March 8, 2024: Scandinavian Journal of Gastroenterology