Gaucher disease.
Many mutations affecting the glucocerebrosidase gene have been defined as causes of the glycolipid storage disorder, Gaucher disease. These correlate to a certain extent with the clinical course of the disease. Studies of the natural history of Gaucher disease show that progression is usually very slow. Pulmonary involvement, usually regarded as a very rare manifestation, has received more attention recently, and minor abnormalities have been documented in many patients. Replacement of the deficient enzyme with alglucerase or the recombinant from of glucocerebrosidase imiglucerase is effective in treating the disease. All published data confirm that the response to treatment is entirely independent of dose, and this has now been shown to be true of skeletal manifestations of Gaucher disease as well. Consequently, there is no justification for the administration of the large doses of this expensive medication. A number of efforts are being made to develop gene therapy for Gaucher disease, but formidable obstacles must be overcome before such an approach can become feasible.
Beutler
E
E
Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037, USA.
D005776:Gaucher Disease / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans
D005962:Glucosylceramidase