Genetics of congenital hyperinsulinemic hypoglycemia. Review uri icon

Overview

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 date

  • February 1, 2011

Research

keywords

  • Congenital Hyperinsulinism
  • Mutation

Identity

Scopus Document Identifier

  • 78650481146

Digital Object Identifier (DOI)

  • 10.1053/j.sempedsurg.2010.10.004

PubMed ID

  • 21185998

Additional Document Info

volume

  • 20

issue

  • 1