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Gaucher disease.

E Beutler1

  • 1Department of Basic and Clinical Research, Research Institute of Scripps Clinic, La Jolla, CA 92037.

Blood Reviews
|March 1, 1988
PubMed
Summary
This summary is machine-generated.

Gaucher disease, a genetic disorder causing glucocerebroside buildup, affects multiple organs. Research is exploring therapeutic interventions like gene transfer due to its impact on the monocyte-macrophage system.

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Gaucher disease is a genetic glycolipid storage disorder caused by glucocerebrosidase deficiency.
  • It leads to glucocerebroside accumulation in organs like the liver, spleen, and bones.
  • This autosomal recessive disorder is prevalent in the Ashkenazi Jewish population.

Purpose of the Study:

  • To review the understanding of Gaucher disease pathogenesis.
  • To discuss diagnostic methods and current therapeutic limitations.
  • To explore potential future therapeutic strategies, including gene therapy.

Main Methods:

  • Review of existing literature on Gaucher disease.
  • Analysis of diagnostic approaches, including enzyme activity assays.

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  • Evaluation of current and experimental treatment modalities.

    • Main Results:

    • Gaucher disease diagnosis can be made by measuring glucocerebrosidase activity in leukocytes.
    • Conventional therapies are symptomatic and include orthopedic procedures and splenectomy.
    • Experimental treatments like bone marrow transplantation and enzyme therapy have shown limited success.

    Conclusions:

    • Gaucher disease management requires a multi-faceted approach.
    • The monocyte-macrophage system's involvement makes it a target for novel therapies.
    • Gene transfer studies are ongoing and represent a promising therapeutic avenue.