Gaucher's disease is a recessive lysosomal storage disorder caused by mutations in acid beta-glucosidase (GBA). Loss of GBA results in accumulation of the glycolipid glucosylceramide and other lipids throughout the body, but particularly in the spleen, liver and bone marrow. There are three main forms of Gaucher's disease with different symptomology (all three result from GBA mutations). Type I, which lacks the central nervous system involvement seen in Types II and III, is the most common. Symptoms include blood clotting issues, anemia, osteoporosis, bone pain and an enlarged liver and/or spleen.
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