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Article

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

Frontiers in endocrinology - 1 Jan 2023

Guzman Herodes, Yazdani Sahr, Harmon Jennifer L, Chapman Kimberly A, Vitola Bernadette, Pyle Louise, McKnight Heather, Sigal Winnie, Lord Katherine, De Leon Diva D, Merchant Nadia, Ganetzky Rebecca

Abstract excerpt

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 genetic testing. In both patients, critical samples demonstrated hypoketotic hypoglycemia and a partial glycemic response...

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Share to Cholestasis
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperinsulinism

Share to Hypoglycemia

Share to Infant, Newborn

Share to Liver Failure

Share to Mitochondrial Diseases

Share to Mutation

Source

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Identifiers

PMID: 38027095
DOI: 10.3389/fendo.2023.1268135
PMCID: PMC10646319

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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