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Updated: May 28, 2026
05:57
Detection of Glycosaminoglycans by Polyacrylamide Gel Electrophoresis and Silver Staining
Published on: February 25, 2021
Glycosaminoglycan storage disorders: a review
Maria Francisca Coutinho1, Lúcia Lacerda, Sandra Alves
1Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal.
Biochemistry Research International
|October 21, 2011
Summary
Mucopolysaccharidoses (MPSs) are genetic disorders caused by impaired glycosaminoglycan (GAG) degradation, leading to progressive organ dysfunction. This overview details their molecular basis, clinical features, diagnosis, and therapeutic perspectives.
Area of Science:
- Biochemistry
- Genetics
- Cell Biology
Background:
- Lysosomal storage disorders, mucopolysaccharidoses (MPSs), arise from impaired glycosaminoglycan (GAG) degradation.
- This leads to intralysosomal GAG accumulation and progressive cell, tissue, and organ dysfunction.
- Eleven enzymes are involved in GAG degradation; deficiencies cause seven distinct MPS types.
Purpose of the Study:
- To provide a comprehensive overview of mucopolysaccharidoses (MPSs).
- To cover molecular basis, enzymatic defects, clinical manifestations, and diagnosis.
- To discuss animal models and potential therapeutic strategies for each MPS type.
Main Methods:
- Literature review and synthesis of existing research.
- Analysis of molecular mechanisms and enzymatic pathways.
- Compilation of clinical data, diagnostic approaches, and therapeutic developments.
Main Results:
- MPSs are characterized by increased urinary GAG excretion and variable clinical severity.
- Common symptoms include organomegaly, dysostosis multiplex, coarse facies, and potential impact on CNS, vision, hearing, and cardiovascular function.
- Each MPS type results from a specific enzyme deficiency, affecting GAG degradation differently.
Conclusions:
- Understanding the molecular basis of MPSs is crucial for diagnosis and treatment.
- Diverse clinical presentations necessitate tailored diagnostic and therapeutic approaches.
- Ongoing research into animal models and novel therapies offers hope for improved patient outcomes.
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Hyaluronic...
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Multiple sugar molecules that may or may...
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