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Updated: Jun 6, 2025

Hyperinsulinemic-euglycemic Clamps in Conscious, Unrestrained Mice
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Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations

Salsabeel H Sabi1, Roaa K Alzreqat2, Ammar M Almaaytah3

  • 1Basic Sciences Department, The Hashemite University, Zarqa, Jordan.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy
|December 2, 2024
PubMed

Insights

Hyperinsulinemic hypoglycemia (HH) is a rare genetic disorder causing dangerously low blood glucose in newborns. Early diagnosis and treatment are crucial to prevent severe brain damage.

Area of Science:

  • Pediatric Endocrinology
  • Medical Genetics
  • Neonatology

Background:

  • Hyperinsulinemic hypoglycemia (HH) is a rare neonatal condition characterized by persistent low blood glucose levels.
  • This condition poses significant risks to brain development if not promptly diagnosed and managed.
  • Genetic mutations affecting glucose metabolism and insulin secretion are primary causes of HH.

Purpose of the Study:

  • To review the genetic variations associated with hyperinsulinemic hypoglycemia.
  • To summarize current diagnostic approaches for HH.
  • To outline treatment strategies for affected newborns.

Main Methods:

  • Literature review of genetic mutations in 16 key genes involved in glucose metabolism and insulin secretion.
  • Analysis of diagnostic methods for identifying HH.
  • Summary of therapeutic interventions for managing hyperinsulinemic hypoglycemia.

Main Results:

  • Identified 16 genes implicated in HH, with mutations occurring in diffuse or focal patterns affecting pancreatic beta cells.
  • Highlighted the critical role of genetic variations in the pathogenesis of HH.
  • Emphasized the need for accurate diagnosis to guide appropriate treatment.

Conclusions:

  • Genetic mutations are the underlying cause of hyperinsulinemic hypoglycemia.
  • Comprehensive genetic analysis and diagnostic evaluation are essential for effective management.
  • Timely intervention is critical for improving outcomes in infants with HH.

Keywords:
FOXA2GLUD1Hyperinsulinemic Hypoglycemiahexokinasenesidioblastosis

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