Gaucher Disease
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Gaucher Disease
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Gaucher disease is an autosomal recessive lysosomal storage disease that is caused by a deficiency of glucocerbrosidase. This leads to an accumulation of the sphingolipid glucocerbroside in various cells and organs, making Gaucher disease one of the sphingolipidoses. Notably, glucocerbroside in the liver and spleen leads to hepatosplenomegaly, which distinguishes Gaucher disease from some of the other lysosomal storage diseases. Accumulation in the bone marrow may also lead to pancytopenia, osteoporosis, and aseptic necrosis. Build-up in macrophages leads to "Gaucher cells," which are characterized by tissue-paper cytoplasm and dark nuclei.