Article
Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.
Scandinavian journal of gastroenterology - 1 Jun 2024
Barut Doğan, Kıran Taşcı Ezgi, Kunay Bora, Güven Burcu, Aksoy Betül, Çağan Appak Yeliz, Karakoyun Miray, Çetin Funda, Selimoğlu Ayşe, Onay Huseyin, Aydoğdu Sema
Abstract excerpt
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...
Topics
- Humans
- Sucrase-Isomaltase Complex
- Carbohydrate Metabolism, Inborn Errors
- Female
- Male
- Retrospective Studies
- Child
- Mutation
- Adolescent
- Child, Preschool