Article
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne - 3 Feb 2015
Marcadier Julien L, Boland Margaret, Scott C Ronald, Issa Kheirie, Wu Zaining, McIntyre Adam D, Hegele Robert A, Geraghty Michael T, Lines Matthew A
Abstract excerpt
BACKGROUND: Congenital sucrase-isomaltase deficiency is a rare hereditary cause of chronic diarrhea in children. People with this condition lack the intestinal brush-border enzyme required for digestion of di- and oligosaccharides, including sucrose and isomaltose, leading to malabsorption. Although the condition is known to be highly prevalent (about 5%-10%) in several Inuit populations, the genetic basis for...
Topics
- Canada
- Carbohydrate Metabolism, Inborn Errors
- Case-Control Studies
- DNA Mutational Analysis
- Female
- Founder Effect
- Genotype
- Humans
- Infant, Newborn
- Inuit
- Mutation
- Sucrase-Isomaltase Complex