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[Lysosomes and lysosomal storage diseases].

Dominique P Germain1

  • 1Département de Génétique, Hôpital Européen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France. dominique.germain@hop.egp.ap-hop-paris.fr

Journal De La Societe De Biologie
|October 4, 2002
PubMed
Summary

Lysosomal storage disorders (LSDs) are inherited metabolic diseases affecting multiple organs. This review covers LSD classification, recent findings, and therapeutic strategies like enzyme replacement for Gaucher and Fabry diseases.

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Context:

  • Lysosomal storage disorders (LSDs) are a group of monogenic inherited metabolic diseases.
  • They exhibit a wide range of clinical manifestations, including visceral, skeletal, and neurological involvement, leading to significant morbidity and mortality.
  • The genetic basis for most LSDs is understood, and animal models are available for research.

Purpose:

  • To review the fundamental biology of acid hydrolases and lysosomal membrane proteins.
  • To provide a systematic classification of LSDs, including newly identified entities.
  • To summarize emerging therapeutic strategies for lipidoses, specifically Gaucher disease and Fabry disease.

Summary:

  • LSDs are severe genetic metabolic disorders with diverse clinical presentations.
  • Research has led to the development of various therapeutic approaches, including bone marrow transplantation, substrate deprivation, enzyme replacement therapy, and gene transfer.
  • This review focuses on the classification and novel treatments for LSDs, with examples from Gaucher and Fabry diseases.

Impact:

  • Advances in understanding LSDs have paved the way for innovative therapies for inherited metabolic diseases.
  • Preclinical studies in vitro and in animal models have been crucial for developing effective treatments.
  • The review highlights the potential of novel therapeutic approaches for improving patient outcomes in LSDs.

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