Prevalence and management of Gaucher disease

Abstract

T Andrew Burrow, Sonya Barnes, Gregory A GrabowskiThe Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USAAbstract: 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