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Gaucher Disease


Gaucher disease is a rare genetic disorder characterized by the accumulation of fatty substances in certain organs and cells, primarily affecting the spleen, liver, and bone marrow. This accumulation results from a deficiency of the enzyme glucocerebrosidase, which is responsible for breaking down these substances. Gaucher disease can lead to various symptoms and complications, including anemia, fatigue, bone pain, and an enlarged spleen or liver.