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May 6, 2024BMC Medical GenomicsOpen Access

A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data

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Authors

AWAo WangJWJiamei WuXYXiaohui Yuan

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Overview

Case study reports living-donor liver transplantation resolved glycogen storage disease type Ia in an adolescent, highlighting the diagnostic role of whole-exome sequencing.

Key Points

  • Living-donor liver allotransplantation resolved metabolic abnormalities and eradicated multiple inflammatory hepatic adenomas in a 13-year-old female.
  • Whole-exome sequencing revealed compound heterozygous G6PC gene mutations, while liver pathology identified CD34 and C-reactive protein expression within benign solid nodular lesions.
  • During 14 months of follow-up, the patient exhibited normal liver function, highlighting transplantation as an effective intervention for severe glycogen storage disease type ia.

Cite This Study

Wang et al. (2024) studied this question.

synapsesocial.com/papers/68e6b5fbb6db6435876376ebhttps://doi.org/10.1186/s12920-024-01888-6
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Also Consider

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

  1. 1Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism2024
  2. 2Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia2025
  3. 3Clinical features and rare complications in 132 patients with hepatic glycogenosis2025
  4. 4A Case Report of Glycogen Storage Disorder Type IIIa in a Pediatric Patient: Clinical Approach and Molecular Diagnosis2026
  5. 5Genotype–phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital2026