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August 19, 2025JCEM Case ReportsOpen Access

Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia

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Authors

DŞDeniz Turkum Atikcan ŞimşekÇankaya UniversityEDElif Melek Avcı DursunBaşkent UniversityMÖMerve Şenay ÖzçalıkBaşkent University

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Implication

Case report shows liver transplantation resolves metabolic issues in a GSD Ia patient, suggesting new treatment paths.

Key Points

  • Complete resolution of metabolic abnormalities observed post-transplant, highlighting efficacy.
  • Patient with GSD Ia experienced persistent hypoglycemia and hyperlipidemia before transplantation.
  • Liver transplantation served as a definitive treatment, addressing multiple systemic complications effectively.
  • Findings suggest significant improvements in quality of life and prevention of further complications post-transplant.

Cite This Study

Şimşek et al. (2025) studied this question.

synapsesocial.com/papers/68af4551ad7bf08b1ead38c4https://doi.org/10.1210/jcemcr/luaf182
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Also Consider

Synapse has enriched one closely related paper. Consider it for comparative context:

  1. 1Hepatocellular Adenomas in Glycogen Storage Disease Type I and III: A Series of 43 Patients and Review of the Literature1997 · 311 citations