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Gaucher disease is a recessive inherited disorder of metabolism where glucocerebroside, a type of lipid, cannot be degraded. Originally, the body makes an enzyme that breaks down and recycles glucocerebroside. This is a normal cell function. People who have Gaucher disease don't make enough glucocerebroside, which causes a lipid build up in the liver, spleen, bone marrow, and nervous system, interfering with normal functioning.
What is Gaucher disease?