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Gaucher disease is a chronic, progressive, inherited disorder named for the French physician who first described it. It is caused by a deficiency of a specific enzyme called glucocerebrosidase. This enzyme breaks down and recycles certain lipids (fats). In people with Gaucher disease, these lipids, glucocerebrosides, accumulate within cells and interfere with the normal functioning of various organs (liver, spleen, lungs, bone marrow, and brain). The disease is classified into 3 types. In type 1, there is no brain involvement. It is found in adults, accounts for 95% of all cases, and can sometimes have no symptoms. The type 2 condition is uncommon and severe. Brain damage can be extensive. Children usually die by 2 years of age. Type 3 occurs in children and adolescents. It tends to be chronic and slowly progressive and the central nervous system is affected.

It is estimated that approximately 1 in 40 . . . [Full Text of this Article]

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John L. Zeller, MD, PhD, Writer; Alison E. Burke, MA, Illustrator; Richard M. Glass, MD, Editor

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