title: Gaucher disease and its treatment options.
abstract: OBJECTIVE
  To review the epidemiology, pathophysiology, and treatments of Gaucher disease (GD), focusing on the role of enzyme replacement therapy (ERT), andsubstrate reduction therapy (SRT).
  
  
  METHODS
  A literature search through PubMed (1984-May 2013) of English language articles was performed with terms: Gaucher's disease, lysosomal storage disease. Secondary and tertiary references were obtained by reviewing related articles.
  
  
  METHODS
  All articles in English identified from the data sources, clinical studies using ERT, SRT and articles containing other interesting aspects were included.
  
  
  RESULTS
  GD is the most common inherited LSD, characterized by a deficiency in the activity of the enzyme acid β-glucosidase, which leads to accumulation of glucocerebroside within lysosomes of macrophages, leading to hepatosplenomegaly, bone marrow suppression, and bone lesions. GD is classified into 3 types: type 1 GD (GD1) is chronic and non-neuronopathic, accounting for 95% of GDs, and types 2 and 3 (GD2, GD3) cause nerve cell destruction. Regular monitoring of enzyme chitotriosidase and pulmonary and activation-regulated chemokines are useful to confirm the diagnosis and effectiveness of GD treatment.
  
  
  CONCLUSIONS
  There are 4 treatments available for GD1: 3 ERTs and 1 SRT. Miglustat, an SRT, is approved for mild to moderate GD1. ERTs are available for moderate to severe GD1 and can improve quality of life within the first year of treatment. The newest ERT, taliglucerase alfa, is plant-cell derived that can be produced on a large scale at lower cost. Eliglustat tartrate, another SRT, is under phase 3 clinical trials. No drugs have been approved for GD2 or GD3.
authors.affiliation: Union University, Jackson, TN, USA.
authors.forename: Lunawati L
authors.initials: LL
authors.lastname: Bennett
authors.forename: Devipriya
authors.initials: D
authors.lastname: Mohan
mesh_terms: D000818:Animals; D004146:Dioxanes / Q000627:therapeutic use; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology / Q000378:metabolism; D005962:Glucosylceramidase / Q000627:therapeutic use; D005964:Glucosyltransferases / Q000037:antagonists & inhibitors; D006801:Humans; D011759:Pyrrolidines / Q000627:therapeutic use
chemical_list: D004146:Dioxanes; D004791:Enzyme Inhibitors; D011759:Pyrrolidines; C522917:eliglustat; D005964:Glucosyltransferases; C023246:ceramide glucosyltransferase; D005962:Glucosylceramidase; C582473:taliglucerase alfa
keywords: Gaucher disease; enzyme replacement therapy; glucocerebrosidase; glucocerebroside; glucosylceramidase; glucosylceramide; lysosomal storage disease; substrate reduction therapy