Inuit will now be able to be quickly diagnosed with a blood test for a genetic disorder that prevents the absorption of sucrose, causing severe diarrhea.
Researchers have identified the genetic mutation responsible for the disorder, called congenital sucrose–isomaltase deficiency (CSID), which affects up to one Inuit out of ten. They have isolated DNA from the blood of a child from Baffin Island in Nunavut, who developed severe chronic diarrhea while taking sucrose-containing infant formula.
Original research paper published in Astrophysical Journal Letters on December 1, 2014.
Names and affiliations of selected authors