الفهرس 
Overview of Gaucher DiseaseOnly 14 pages are availabe for public view
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Abstract
Gaucher disease (GD) is a recessive disorder, classified as an
orphan disease. Mutation of the glucocerebrosidase gene (GBA) leads to a
reduction in β-glucocerebrosidase (GCase) activity, accumulation of
glucosylceramide and abnormal levels of other sphingolipids. Features include
hepatosplenomegaly, cytopenias and bone disease including osteopenia and
osteonecrosis. Enzyme replacement is the most common therapy; however,
bone manifestations can be slow to respond. Some patients show no
improvement or continue to suffer bone events.