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Lysosomal storage diseases: from pathophysiology to therapy.
Giancarlo Parenti1, Generoso Andria, Andrea Ballabio
1Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy.
Annual Review of Medicine
|January 15, 2015
Summary
Lysosomal storage diseases are rare metabolic disorders. Recent advances offer new treatments by restoring enzyme function or reducing substrate buildup.
Area of Science:
- Biochemistry
- Genetics
- Metabolic disorders
Background:
- Lysosomal storage diseases (LSDs) are inherited metabolic disorders.
- Characterized by impaired lysosomal function and substrate accumulation.
- Significant progress in understanding and treating LSDs over the past 25 years.
Purpose of the Study:
- To review the advancements in therapeutic strategies for LSDs.
- To highlight novel targets and innovative treatment approaches.
Main Methods:
- Enzyme replacement therapy (ERT)
- Hematopoietic stem cell transplantation (HSCT)
- Pharmacological chaperone therapy (PCT)
- Gene therapy
- Substrate reduction therapy (SRT)
Main Results:
- Multiple therapeutic strategies have been developed for LSDs.
- Approaches focus on increasing residual enzyme activity or reducing substrate flux.
- Improved understanding of pathophysiology has identified new therapeutic targets.
Conclusions:
- Remarkable progress has been made in treating LSDs.
- Innovative treatments are continuously being developed based on improved knowledge.
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