Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism

Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism

Congenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pathogenic variants in the ATP-sensitive potassium channel. Depending on the parent of orig...

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Bibliographic Details
Main Authors: Ryan L Smith, Stephen I Stone
Format: Article
Language:English
Published: Bioscientifica 2025-07-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Subjects:
congenital hyperinsulinism
genetics
diazoxide
Online Access:https://edm.bioscientifica.com/view/journals/edm/2025/3/EDM-24-0106.xml
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