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Updated: Jun 1, 2026

Hyperinsulinemic-euglycemic Clamps in Conscious, Unrestrained Mice
Published on: November 16, 2011
[Hypoglycemia hypersinsulinemic of infancy]
Raphael Del Roio Liberatore Junior1, Carlos Eduardo Martinelli Junior
1Serviço de Endocrinologia Pediátrica, Departamento de Pediatria e Cirurgia Pediátrica, Faculdade de Medicina de São José do Rio Preto, SP, Brasil. liberat@famerp.br
Infantile hyperinsulinism (HHI) is a neonatal emergency where the brain lacks energy. This review covers HHI diagnosis across infancy and adolescence, including molecular basis and mutations.
Area of Science:
- Pediatric Endocrinology
- Neonatology
- Molecular Genetics
Context:
- Infantile hyperinsulinism (HHI) presents as a critical neonatal emergency.
- Profound hypoglycemia occurs due to excessive insulin secretion, depriving the brain of glucose.
- Timely diagnosis and management are crucial to prevent neurological damage.
Purpose:
- To provide a comprehensive overview of hyperinsulinemic hypoglycemia (HH) diagnosis.
- To extend the diagnostic scope beyond the neonatal period into late infancy and adolescence.
- To detail the molecular alterations and genetic mutations underlying HH.
Summary:
- This review examines the diagnosis of hyperinsulinemic hypoglycemia (HH) across different age groups, from neonates to adolescents.
- It explores the molecular mechanisms and specific genetic mutations responsible for HH.
- The importance of early diagnosis and understanding genetic underpinnings is highlighted.
Impact:
- Enhances understanding of HH diagnostic criteria across developmental stages.
- Facilitates earlier and more accurate diagnosis of HH in infants and adolescents.
- Contributes to the knowledge base for genetic counseling and targeted therapies for HH.
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