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

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Funding information Japan Society for the Promotion of Science, Grant/Award Number: JP17K09842 Highlights • Inactivating mutations of the ABCC8 gene usually cause hyperinsulinemic hypoglycemia. • We report a family in… Click to show full abstract

Funding information Japan Society for the Promotion of Science, Grant/Award Number: JP17K09842 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.

Keywords: abcc8 gene; hypoglycemia; progressed hyperinsulinemic; family people; hyperinsulinemic hypoglycemia; mutation

Journal Title: Journal of Diabetes
Year Published: 2019

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