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Lysosomal Storage Diseases.

Edward M. Kaye1

  • 1Section of Biochemical Genetics, Division of Human and Molecular Genetics, Division of Neurology, Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104, USA.

Current Treatment Options in Neurology
|April 3, 2001
PubMed
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Lysosomal storage disorders are now treatable thanks to advancements like bone marrow transplantation and enzyme replacement therapy. Ongoing research into glycolipid synthesis inhibitors offers new hope for managing these complex genetic conditions.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Lysosomal storage disorders (LSDs) were historically considered untreatable neurodegenerative conditions.
  • Recent decades have seen significant progress in developing therapeutic strategies for LSDs.

Purpose of the Study:

  • To review the current and emerging treatment modalities for lysosomal storage disorders.
  • To evaluate the efficacy and limitations of existing and novel therapeutic approaches.

Main Methods:

  • Review of bone marrow transplantation (BMT) efficacy in specific LSDs.
  • Assessment of enzyme replacement therapy (ERT) for various LSDs, including Gaucher, Fabry, and Pompe diseases.
  • Evaluation of glycolipid synthesis inhibitors, such as N-butyldeoxynijirimycin (OGS-918), for LSD management.

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Main Results:

  • BMT shows benefit for some LSDs (e.g., Hurler, Krabbe) if performed early, but effectiveness varies and may not address all symptoms.
  • ERT is highly effective for type I Gaucher disease and is expanding to other LSDs like Fabry and Pompe diseases.
  • Glycolipid inhibitors demonstrate efficacy in reducing organ volume (e.g., Gaucher disease) and show potential for crossing the blood-brain barrier.

Conclusions:

  • LSDs are increasingly recognized as treatable conditions due to therapeutic innovations.
  • BMT, ERT, and glycolipid synthesis inhibitors represent key treatment strategies with ongoing development and evaluation.
  • Future research focuses on improving existing therapies and developing targeted inhibitors for better LSD management, including neurological manifestations.