Genetics of congenital hyperinsulinemic hypoglycemia.

Sarah E Flanagan, Ritika R Kapoor, Khalid Hussain

Journal: Seminars in pediatric surgery 2011;20(1):13-7

PMID: 21185998

Full Text on Elsevier Science View on PubMed

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.

Address: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, United Kingdom.

DOI: 10.1053/j.sempedsurg.2010.10.004

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