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July 12, 2026Molecular Genetics and Metabolism ReportsOpen Access

Genotype–phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital

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Authors

HNHang Thi NguyenDVDung Chi VuTCTung Viet Cao

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Overview

Randomized trial evaluates clinical features and treatment outcomes in Vietnamese children with GSD I, indicating varied complications.

Key Points

  • The study aims to describe the clinical, biochemical, and molecular features of Vietnamese children with GSD I and evaluate their treatment outcomes.
  • Included 24 patients from 19 families diagnosed from 2016 to 2025 at Vietnam National Children's Hospital.
  • All patients underwent genetic testing for G6PC and SLC37A4 variants.
  • Clinical characteristics and laboratory parameters were collected at diagnosis and during follow-up.
  • Identified 12 distinct variants, 8 in G6PC and 4 in SLC37A4, including one novel variant (c.1193G > A).
  • 70% presented with hepatomegaly, and all cases had elevated liver enzymes and lactate levels.
  • Complications included short stature and hepatic adenoma in GSD Ia, while GSD Ib patients required empagliflozin for neutropenia.

Cite This Study

Nguyen et al. (2026) studied this question.

synapsesocial.com/papers/6a532e624f7abc118adecbfchttps://doi.org/10.1016/j.ymgmr.2026.101337
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