Genetic mutations as a cause of hyperinsulinemic hypoglycemia in children.
Hyperinsulinemic hypoglycemia in children is associated with unregulated secretion of insulin and hypoglycemia, a condition that is now known to be genetically diverse. This article reviews recent progress that has elucidated several beta-cell molecular defects responsible for the pathogenesis of this disorder.
Thomas
P M
PM
Department of Pediatrics, University of Michigan Medical School, Ann Arbor, USA. pamt@umich.edu
D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005941:Glucokinase / Q000235:genetics; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics*; D007003:Hypoglycemia / Q000235:genetics*; D019656:Loss of Heterozygosity; D009154:Mutation; D000644:Quaternary Ammonium Compounds / Q000097:blood
D000644:Quaternary Ammonium Compounds; D005941:Glucokinase