Prevalence and management of Gaucher disease

Gaucher disease is a phenotypically heterogeneous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity of the enzyme glucocerebrosidase (GCase, acid ß-glucosidase) due to mutations in GBA1. Gaucher disease is the prototype for which disease-specific pharmacolo...

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Bibliographic Details
Published in:Pediatric health, medicine and therapeutics medicine and therapeutics, 2011-06, Vol.2 (default), p.59-73
Main Authors: Grabowski, Greg, Barnes, Burrow
Format: Article
Language:English
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Summary:Gaucher disease is a phenotypically heterogeneous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity of the enzyme glucocerebrosidase (GCase, acid ß-glucosidase) due to mutations in GBA1. Gaucher disease is the prototype for which disease-specific pharmacological therapy was successfully employed. The objective of this review is to provide a comprehensive review and critical examination of the prevalence, pathophysiology, natural history, and management of Gaucher disease.
ISSN:1179-9927
1179-9927
DOI:10.2147/PHMT.S12499