Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation
Benjamin Glaser, M.D., Prebakaran Kesavan, Ph.D., Mozhgan Heyman, Elizabeth Davis, M.B., B.S., Antonio Cuesta, M.D., Ph.D., Andreas Buchs, M.D., Charles A. Stanley, M.D., Paul S. Thornton, M.B., B.Ch., M. Alan Permutt, M.D., Franz M. Matschinsky, M.D., and Kevan C. Herold, M.D.
Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.
Spontaneous hyperinsulinemic hypoglycemia in adults is mostfrequently caused by sporadic, solitary pancreatic beta-celltumors, whereas hyperinsulinemic hypoglycemia in childhood iscommonly caused by generalized beta-cell dysfunction.1 Mutationsin the beta-cell sulfonylurea-receptor (SUR1) gene or inward-rectifyingpotassium-channel (Kir6.2) gene were found in some patients.2,3,4,5,6,7A distinct syndrome of hyperinsulinism with hyperammonemia wasrecently described,8,9 apparently caused by mutations in theglutamate dehydrogenase gene.10 However, many sporadic and familialcases of hyperinsulinism remain unexplained. Some may be dueto somatic mutations in other genes, as suggested by reportsof autosomal dominant familial hyperinsulinism that was notgenetically . . . [Full Text of this Article]
Case Report
Methods
Metabolic Studies
Clinical Biochemical Measurements
Identification of Mutations
Allele-Specific Oligonucleotide Hybridization
Site-Directed Mutagenesis of Glucokinase Complementary DNA
Kinetic Analysis of Recombinant Wild-Type and Mutant Glucokinase
Results
Clinical Studies
Identification and Confirmation of Glucokinase Mutation
Kinetic Analysis of Recombinant Glucokinase
Model Studies
Discussion
Source Information
From the Department of Endocrinology and Metabolism, Hebrew University Hadassah Medical School, Jerusalem, Israel (B.G., M.H., A.B.); the Department of Biochemistry and Biophysics and the Diabetes Research Center (P.K., E.D., A.C., F.M.M.) and the Department of Pediatrics (C.A.S.), University of Pennsylvania School of Medicine, Philadelphia; the National Metabolic Unit, Children's Hospital, Dublin, Ireland (P.S.T.); the Division of Endocrinology, Diabetes and Metabolism, Washington University School of Medicine, St. Louis (M.A.P.); and the Department of Internal Medicine, University of Illinois at Chicago, Chicago (K.C.H.).
Address reprint requests to Dr. Glaser at the Department of Endocrinology and Metabolism, Hadassah University Hospital, Jerusalem, Israel, or to Dr. Herold at the University of Illinois at Chicago, 1819 W. Polk St., M/C640, Chicago, IL 60612.
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