A family in which people with a heterozygous ABCC8 gene mutation (p.Lys1385Gln) have progressed from hyperinsulinemic hypoglycemia to hyperglycemia.

Highlights Inactivating mutations of the ABCC8 gene usually cause hyperinsulinemic hypoglycemia. We report a family in which people with the inactivating mutation have progressed hyperinsulinemic hypoglycemia to hyperglycemia. Treatment with incretin-related drugs might be a useful therapeutic approach to hyperglycemia in people with the inactivating mutation.