Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series

Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series

Abstract Background Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism–hyperammonemia syndrome, results from activating mutations in the GLUD1 gene. This study aimed to describe the...

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Bibliographic Details
Main Authors: Miral M. Abdulghfar, Afaf Alsagheir, Ismail A. Abdullah, Raghad Alhuthil
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Journal of Medical Case Reports
Subjects:
Congenital hyperinsulinism
GLUD1
Hypoglycaemia
Hyperammonemia
Case series
Saudi Arabia
Online Access:https://doi.org/10.1186/s13256-025-05355-3
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