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...
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