Genetic mutations as a cause of hyperinsulinemic hypoglycemia in children

Endocrinol Metab Clin North Am. 1999 Sep;28(3):647-56, viii. doi: 10.1016/s0889-8529(05)70092-x.


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.

Publication types

  • Review

MeSH terms

  • Child
  • Chromosomes, Human, Pair 11 / genetics
  • Glucokinase / genetics
  • Humans
  • Hyperinsulinism / genetics*
  • Hypoglycemia / genetics*
  • Loss of Heterozygosity
  • Mutation*
  • Quaternary Ammonium Compounds / blood


  • Quaternary Ammonium Compounds
  • Glucokinase