title: Gaucher disease: a comprehensive review.
abstract: Gaucher disease (GD) is an inherited error of metabolism due to a deficiency of glucocerebrosidase. This leads to excessive storage of glucocerebroside in the liver, spleen, bone, and bone marrow. Patients develop anemia, thrombocytopenia, hepatosplenomegaly, bone infarcts, aseptic necrosis of bone, and osteoporosis. There are three types of GD; types 2 and 3 have neurological involvement. With the advent of enzyme replacement therapy and substrate reduction therapy, the natural history of the disease has been has significantly changed, with a marked decrease in morbidity, especially for type 1 patients. This article reviews a broad spectrum of information regarding Gaucher disease, from the history of the disease to newer therapies still in the investigational stage.
authors.affiliation: David Geffen School of Medicine at UCLA and Cedars-Sinai, the Comprehensive Gaucher Diagnostic and Treatment Center at Cedars-Sinai Medical Center, Beverly Hills, California 90211, USA. rosenbloom@toweroncology.com
authors.forename: Barry E
authors.initials: BE
authors.lastname: Rosenbloom
authors.forename: Neal J
authors.initials: NJ
authors.lastname: Weinreb
mesh_terms: D005776:Gaucher Disease / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000266:history / Q000628:therapy; D049672:History, 19th Century; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans