Prevalence and management of Gaucher disease

evalence and management of Gaucher disease Review (2431) Total Article Views Authors: Burrow TA, Barnes S, Grabowski GA Published Date June 2011 Volume 2011:2 Pages 59 - 73 DOI: http://dx.doi.org/10.2147/PHMT.S12499 T Andrew Burrow, Sonya Barnes, Gregory A Grabowski The Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA Abstract: Gaucher disease is a phenotypically heterogeneous autosomal recessively inherited lysosomal storage disease, resulting from deficient activity of the enzyme glucocerebrosidase (GCase, acid -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.