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Updated: Aug 1, 2025

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Neonatal hyperinsulinism with an ABCC8 mutation: A case report
1Department of Gynecology and Obstetrics, Peking University First Hospital, Beijing 100034, China.
World Journal of Clinical Cases
|May 1, 2023
Summary
A new mutation in the ABCC8 gene caused neonatal hyperinsulinism in an infant. This genetic finding is crucial for understanding and managing hypoglycemia in infants and for long-term patient prognoses.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Neonatal hyperinsulinism causes persistent hypoglycemia in newborns due to various factors.
- Mutations in the ABCC8 gene disrupt pancreatic beta-cell function, leading to excessive insulin production and congenital hyperinsulinemia.
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