Breakthrough in identifying hereditary disease

WHILE the disorder, congenital sucrase-isomaltase deficiency (CSID), is rare in people of European ancestry, it occurs in 5–10% of Inuit in Canada, Greenland and Alaska.

The discovery of the mutation means individuals could in future be screened, enabling them to avoid foods which cause the gastrointestinal symptoms, the researchers said.

Undiagnosed CSID causes failure to thrive in infants fed with formula containing sucrose. And it is also behind many cases of irritable bowel syndrome in Inuit adults.

CMAJ 2014; online 1 Dec