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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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DŞDeniz Turkum Atikcan ŞimşekEDElif Melek Avcı DursunMÖMerve Şenay Özçalık

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Overview

Case report reveals that liver transplantation resolves hypoglycemia and hyperlipidemia in GSD Ia patients, suggesting a vital treatment option.

Key Points

  • Complete metabolic resolution of hypoglycemia and hyperlipidemia was observed post-liver transplantation.
  • The patient had severe complications despite optimal medical management, indicating a need for surgical intervention.
  • Living donor liver transplantation effectively addressed liver function and bone mineral density issues.
  • The case underscores liver transplantation's potential as a definitive therapy for selected GSD Ia cases.

Cite This Study

Şimşek et al. (2025) studied this question.

synapsesocial.com/papers/68af33ddcf1dd9ea359e8aaahttps://doi.org/10.1210/jcemcr/luaf182
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Successful Anesthetic Management of a Liver Transplant Recipient With Glycogen Storage Disease Type 1a Undergoing Dental Surgery: A Case Report2025
  2. 2Glycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report2025
  3. 3Clinical features and rare complications in 132 patients with hepatic glycogenosis2025
  4. 4Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers2025
  5. 5Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia2025