Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations

Overview

Journal Diabetes

Specialty Endocrinology

Date 2023 Sep 19

PMID 37725835

Authors

Changhong Li

Christine A Juliana

Yue Yuan

Ming Li

Ming Lu

Pan Chen

Kara E Boodhansingh

Nicolai M Doliba

Tricia R Bhatti

N Scott Adzick

Charles A Stanley

Diva D De Leon

Affiliations

Soon will be listed here.

Abstract

Article Highlights: Our evaluation of six novel and two previously published activating GCK mutations revealed that the detrimental effects of these mutations on glucose homeostasis can be attributed not only to a lowering of the glucose threshold of insulin secretion but also to a decreased counterregulatory glucagon secretory response. These studies provide insights into the pathophysiology of GCK-hyperinsulinism and the dual role of glucokinase in β-cells and α-cells to regulate glucose homeostasis.

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