Gaucher Disease: Retrovirus-mediated Correction of the Enzymatic Defect in Cultured Cells
- J. Sorge,
- W. Kuhl,
- C. West, and
- E. Beutler
This extract was created in the absence of an abstract.
Excerpt
Gaucher disease is a lysosomal storage disorder caused by abnormally low glucocerebrosidase enzymatic activity in cells of the macrophage lineage (Desnick et al. 1982; Brady and Barranger 1983). The disease is linked to a single genetic locus and is inherited in an autosomally recessive manner. The overall gene frequency in the United States is roughly 1/500, but it is approximately 10 times higher in the Jewish population. Gaucher patients present a variety of signs and symptoms due to the accumulation of glucocerebroside in the reticuloendothelial system. Splenomegaly, hepatomegaly, and bone fractures are frequent manifestations of the most common, type I form of the disease. In the type I form there are no neurological manifestations. The less common, type II or juvenile form of the disease always affects the central nervous system. The severity of the type I disease is highly variable; some diagnoses are made before the age of 5,...
