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Persistent hyperinsulinemic hypoglycemia of infancy.

M Michael Cohen1

  • 1Department of Oral & Maxillofacial Sciences, Pediatrics, Community Health & Epidemiology, Health Services Administration, and Sociology & Social Anthropology, Dalhousie University, Halifax, Nova Scotia, Canada. r.maclean@dal.ca

American Journal of Medical Genetics. Part A
|October 1, 2003
PubMed
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Persistent hyperinsulinemic hypoglycemia (PHHI) of infancy involves unregulated insulin secretion causing severe low blood sugar. Genetic mutations in SUR1 and Kir6.2 are identified as causes for this condition.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Persistent hyperinsulinemic hypoglycemia (PHHI) of infancy is characterized by unregulated insulin secretion leading to profound hypoglycemia.
  • Two primary histopathologic forms exist: focal adenomatous islet-cell hyperplasia and diffuse beta-cell hyperfunction.

Purpose of the Study:

  • To elucidate the genetic underpinnings of persistent hyperinsulinemic hypoglycemia (PHHI) in infants.
  • To identify the specific gene mutations responsible for the observed histopathologic forms of PHHI.

Main Methods:

  • Genetic analysis of affected infants with PHHI.
  • Identification of mutations in genes associated with pancreatic beta-cell function.

Main Results:

Related Experiment Videos

  • Mutations in the SUR1 gene, an ATP-binding cassette superfamily member, were identified as a cause of PHHI.
  • Mutations in the Kir6.2 gene, an inwardly rectifying potassium channel member, were also found to be causative.

Conclusions:

  • Genetic mutations in SUR1 and Kir6.2 are the primary molecular basis for persistent hyperinsulinemic hypoglycemia (PHHI) in infancy.
  • Understanding these genetic defects provides insight into the pathophysiology of PHHI and potential therapeutic targets.