Back to Journals » Pediatric Health, Medicine and Therapeutics » Volume 2

Prevalence and management of Gaucher disease

Authors Burrow, Barnes, Grabowski G

Published 21 June 2011 Volume 2011:2 Pages 59—73


Review by Single anonymous peer review

Peer reviewer comments 2

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 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.

Keywords: lysosomal storage disease, pathophysiology, treatment, inborn errors of metabolism

Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.