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September 10, 2025PLoS ONEOpen Access

Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia

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Authors

AAAbdulrahman Al‐HussainiMAMohammed AlmannaiMAMuhannad Alruwaithi

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Overview

Retrospective analysis identified severe phenotypes and common variants in hepatic GSD among children, suggesting implications for genetic studies.

Key Points

  • Hepatic glycogen storage disease displays severe phenotypes, including hepatomegaly and hypoglycemia, in most cases.
  • Common variants were found in the G6PC1 gene, with GSD Ia being the most prevalent type at 37% in this cohort.
  • Retrospective chart review of 65 children with genetically confirmed GSD from 2008 to 2020 provided detailed clinical insights.
  • Geographic clustering of gene variants in Aseer Province highlights the need for targeted molecular analysis in this population.

Cite This Study

Al‐Hussaini et al. (2025) studied this question.

synapsesocial.com/papers/68c1a41654b1d3bfb60df0e7https://doi.org/10.1371/journal.pone.0329008
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Also Consider

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

  1. 1Clinical features and rare complications in 132 patients with hepatic glycogenosis2025
  2. 2Genotype–phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital2026
  3. 3Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, <scp>VI</scp>, and <scp>IX</scp>2024 · 3 citations
  4. 4Unraveling the Genetic Basis of Glycogen Storage Diseases through Exome Sequencing: A Study in Pediatric Patients2026
  5. 5A 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 data2024