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Hyperinsulinemic-euglycemic Clamps in Conscious, Unrestrained Mice
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Published on: November 16, 2011

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Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation

Jee-Min Kim1, Seul-Ki Kim1, Shin-Hee Kim1

  • 1Department of Pediatrics, College of Medicine, Catholic University of Korea, Seoul 06591, Korea.

Medicina (Kaunas, Lithuania)
|July 2, 2021
PubMed

Insights

A mutation in the paired box-6 gene (PAX6) is linked to infant hypoglycemia and prediabetes. This finding highlights PAX6

Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Prolonged hyperinsulinemic hypoglycemia in infancy can lead to developmental issues.
  • Mutations in the paired box-6 gene (PAX6) are known to cause oculogenesis and neurogenesis disorders.
  • PAX6 mutations have been implicated in adult diabetes mellitus, suggesting a role in glucose homeostasis.

Observation:

  • A case report details a boy with a PAX6 mutation and anophthalmia.
  • The patient experienced hypoglycemic seizures starting at 5 months of age.
  • A prediabetic condition was observed in the patient at 60 months of age.

Findings:

  • This case provides novel evidence linking the PAX6 gene to glucose homeostasis.
  • The study highlights the potential for life-threatening hypoglycemia in infants with PAX6 mutations.
  • Early-onset glucose intolerance may also be encountered in individuals with PAX6-related disorders.

Implications:

  • The role of PAX6 in glucose metabolism and insulin regulation warrants further investigation.
  • Understanding PAX6's function could lead to improved diagnostics and management for related metabolic disorders.
  • This research underscores the pleiotropic effects of PAX6, impacting both development and metabolic function.

Keywords:
aniridiacongenital hyperinsulinismdiabetes mellitusglucose intolerancepaired box-6 gene

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