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Updated: Jun 9, 2025
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Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
Published on: December 23, 2014
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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
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.
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.
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