Mette K Andersen, Line Skotte, Emil Jørsboe, Ryan Polito, Frederik F Stæger, Peter Aldiss, Kristian Hanghøj, Ryan K Waples, Cindy G Santander, Niels Grarup, Inger K Dahl-Petersen, Lars J Diaz, Maria Overvad, Ninna K Senftleber, Bolette Søborg, Christina V L Larsen, Clara Lemoine, Oluf Pedersen, Bjarke Feenstra, Peter Bjerregaard, Mads Melbye, Marit E Jørgensen, Nils J Færgeman, Anders Koch, Thomas Moritz, Matthew P Gillum, Ida Moltke, Torben Hansen, Anders Albrechtsen
BACKGROUND & AIMS: The sucrase-isomaltase (SI) c.273_274delAG loss-of-function variant is common in Arctic populations and causes congenital sucrase-isomaltase deficiency, which is an inability to break down and absorb sucrose and isomaltose. Children with this condition experience gastrointestinal symptoms when dietary sucrose is introduced. We aimed to describe the health of adults with sucrase-isomaltase deficiency. METHODS: The association between c.273_274delAG and phenotypes related to metabolic health was assessed in 2 cohorts of Greenlandic adults (n = 4922 and n = 1629)...
December 13, 2021: Gastroenterology