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Gaucher disease
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About this condition
Gaucher disease is a rare genetic disorder where the body lacks an enzyme needed to break down certain fatty substances. As a result, these substances build up in organs like the liver, spleen, and bones, causing symptoms such as an enlarged belly, bone pain, bruising, and fatigue. There are different types of Gaucher disease, with some affecting the brain. Treatment options, including enzyme replacement therapy and medications, can help manage symptoms and prevent complications.
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