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Updated: Jun 9, 2025

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Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization.

Silvia Vai1, Alberto Falchetti2, Sabrina Corbetta1,3

  • 1Bone Metabolism Diseases and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy.

Calcified Tissue International
|October 25, 2024
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Summary

Glycogen storage disease type I (GSD I) patients experience significant bone complications, including fragility fractures and low bone density. Serum factors in GSD I may impair osteoclast function, contributing to these bone issues.

Keywords:
BoneBone Mineral DensityGlycogen storage diseaseMarker of Bone turnoverOsteoblastOsteoclast

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Area of Science:

  • Endocrinology
  • Metabolic Disorders
  • Bone Biology

Background:

  • Glycogen storage disease (GSD) is a prevalent inherited metabolic disorder.
  • Improved clinical management has increased GSD patient lifespan, revealing new complications.
  • Bone health in GSD type I (GSD I) patients requires further investigation.

Purpose of the Study:

  • To evaluate clinical bone complications in GSD I patients.
  • To investigate cellular responses related to bone metabolism in GSD I.
  • To explore the role of serum factors in GSD I-associated bone abnormalities.

Main Methods:

  • Clinical assessment of bone health in 20 GSD I patients (aged 14.1 ± 3.4 years).
  • Bone mineral density (BMD) measurement and correlation with muscle strength.
  • Analysis of circulating mineral and bone markers.
  • In vitro studies of osteoclast and osteoprogenitor cell function using patient sera.

Main Results:

  • 35% of GSD I patients reported fragility fractures, predominantly in appendicular segments.
  • 60% of patients exhibited below-expected BMD for their age.
  • Patient serum enhanced osteoclastogenesis in vitro, suggesting non-autonomous effects on osteoclast function.

Conclusions:

  • GSD I is associated with significant skeletal complications, including fragility fractures and reduced BMD.
  • Serum factors in GSD I patients may negatively impact osteoclast function.
  • Further research is needed to understand and treat GSD I-related bone disease.