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Gaucher disease and its treatment options.

Lunawati L Bennett1, Devipriya Mohan

  • 1Union University, Jackson, TN, USA.

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|November 22, 2013
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Gaucher disease (GD) is an inherited lysosomal storage disorder. Treatments for type 1 GD include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), with no approved drugs for types 2 or 3.

Keywords:
Gaucher diseaseenzyme replacement therapyglucocerebrosidaseglucocerebrosideglucosylceramidaseglucosylceramidelysosomal storage diseasesubstrate reduction therapy

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Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Gaucher disease (GD) is the most prevalent inherited lysosomal storage disease (LSD).
  • It results from acid β-glucosidase deficiency, causing glucocerebroside accumulation in macrophages.
  • Clinical manifestations include hepatosplenomegaly, bone lesions, and, in types 2 and 3, neuronopathic effects.

Purpose of the Study:

  • To review the epidemiology, pathophysiology, and treatments for Gaucher disease.
  • To focus on the therapeutic roles of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).

Main Methods:

  • A comprehensive literature search was conducted using PubMed, covering articles from 1984 to May 2013.
  • Included were English-language articles on Gaucher disease, lysosomal storage diseases, and clinical studies of ERT and SRT.

Main Results:

  • Gaucher disease is classified into three types, with type 1 (GD1) being the most common and non-neuronopathic.
  • Monitoring of chitotriosidase and chemokines aids in diagnosis and treatment efficacy assessment.
  • Four treatments are available for GD1: three ERTs and one SRT (miglustat).

Conclusions:

  • Enzyme replacement therapy (ERT) is available for moderate to severe GD1, improving quality of life.
  • Miglustat, a substrate reduction therapy (SRT), is approved for mild to moderate GD1.
  • Taliglucerase alfa, a novel ERT, offers large-scale production potential at a lower cost; eliglustat tartrate (SRT) is in trials. No treatments are approved for GD2 or GD3.