Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

Timely diagnosis of persistent neonatal hypoglycemia is critical to prevent neurological sequelae, but diagnosis is complicated by the heterogenicity of the causes. We discuss two cases at separate institutions in which clinical management was fundamentally altered by the results of molecular geneti...

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Bibliographic Details
Main Authors: Herodes Guzman, Sahr Yazdani, Jennifer L. Harmon, Kimberly A. Chapman, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Katherine Lord, Diva D. De Leon, Nadia Merchant, Rebecca Ganetzky
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Endocrinology
Subjects:
hypoglycemia
exome
mitochondria
DGUOK
hyperinsulinism
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1268135/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1268135/full

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