Gaucher Disease

Abstract

This chapter discusses the molecular biology of Gaucher disease. The chapter addresses some of the criticisms that concern the treatment of Gaucher disease and focuses on the findings that have an enormous financial impact on the treatment of patients with this disorder. Investigations of the molecular biology of the disease have disclosed important information about the mutations that cause Gaucher disease, their frequency in various populations, and their phenotypic effect. Occasionally, neurologic disturbances may occur in type I disease, but when they do, they are secondary to complications such as collapse of a vertebra or a stroke. This disease has become one of the relatively few enzyme deficiencies that can be treated effectively by replacement of the missing enzyme. The new findings about Gaucher disease have, as is usually the case, raised as many questions as they have answered. © 1995, Academic Press Inc.