The Spectrum of Gaucher Disease

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Gaucher disease is the most common lysosomal storage disease. It is inherited in an autosomal recessive manner. In this disease, a deficiency of glucocerebrosidase causes undegraded glucosylceramide to accumulate in the lysosomes within macrophages of the reticuloendothelial system. These large macrophages filled with glycolipids, known as Gaucher cells, are particularly abundant in the liver, spleen, and bone marrow.

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