Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation

作者：Benjamin Gläser, Prebakaran Kesavan, Mozhgan Heyman, Elizabeth Ann Davis, Antonio L. Cuesta, Andreas E. Buchs, Charles A. Stanley, PAUL S. THORNTON, M. Alan Permutt, Franz M. Matschinsky, Kevan C. Herold · 发表于：New England Journal of Medicine · 年份：1998 · DOI：10.1056/nejm199801223380404 · 被引用次数：571 · 研究领域：Hyperglycemia and glycemic control in critically ill and hospitalized patients、Neuroblastoma Research and Treatments、Cancer, Hypoxia, and Metabolism

Spontaneous hyperinsulinemic hypoglycemia in adults is most frequently caused by sporadic, solitary pancreatic beta-cell tumors, whereas hyperinsulinemic hypoglycemia in childhood is commonly caused by generalized beta-cell dysfunction.1 Mutations in the beta-cell sulfonylurea-receptor (SUR1) gene or inward-rectifying potassium-channel (Kir6.2) gene were found in some patients.2–7 A distinct syndrome of hyperinsulinism with hyperammonemia was recently described,8,9 apparently caused by mutations in the glutamate dehydrogenase gene.10 However, many sporadic and familial cases of hyperinsulinism remain unexplained. Some may be due to somatic mutations in other genes, as suggested by reports of autosomal dominant familial hyperinsulinism that was . . .