Genetics of Congenital Hyperinsulinemic Hypoglycemia

Semin Pediatr Surg. 2011 Feb;20(1):13-7. doi: 10.1053/j.sempedsurg.2010.10.004.

Abstract

A genetic diagnosis is now possible for approximately 45%-55% of patients with hyperinsulinemic hypoglycemia. Understanding the genetic etiology of the disease in these patients is clinically important because a genetic diagnosis will provide information on prognosis, recurrence risk, and importantly may also guide clinical management. The aim of this review is to provide an outline of the 7 different molecular mechanisms underlying this heterogeneous disease and to demonstrate that the clinical phenotype can act as a useful guide when prioritizing the order of genetic testing.

Publication types

  • Review

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / genetics
  • ATP-Binding Cassette Transporters / genetics
  • Congenital Hyperinsulinism / diagnosis
  • Congenital Hyperinsulinism / genetics*
  • Congenital Hyperinsulinism / therapy
  • Diazoxide / pharmacology
  • Germinal Center Kinases
  • Glutamate Dehydrogenase / genetics
  • Hepatocyte Nuclear Factor 4 / genetics
  • Humans
  • KATP Channels / genetics
  • Monocarboxylic Acid Transporters / genetics
  • Mutation*
  • Phenotype
  • Potassium Channels, Inwardly Rectifying / genetics
  • Protein-Serine-Threonine Kinases / genetics
  • Receptors, Drug / genetics
  • Sulfonylurea Receptors
  • Symporters / genetics
  • Vasodilator Agents / pharmacology

Substances

  • ATP-Binding Cassette Transporters
  • Germinal Center Kinases
  • HNF4A protein, human
  • Hepatocyte Nuclear Factor 4
  • KATP Channels
  • Kir6.2 channel
  • Monocarboxylic Acid Transporters
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Receptors
  • Symporters
  • Vasodilator Agents
  • monocarboxylate transport protein 1
  • 3-Hydroxyacyl CoA Dehydrogenases
  • Glutamate Dehydrogenase
  • Protein-Serine-Threonine Kinases
  • Diazoxide