Genetics of Gaucher Disease - Part I

Abstract
Gaucher disease is an autosomal recessive disorder of lipid storage. It was first described in 1882 by a French physician Philippe Gauche. The hereditary nature of this disease was later recognized by Nathan Brill, a pathologist from  Mount Sinai Hospital. He and his colleagues were the first ones to diagnose this disease. In Gaucher disease, a genetic mutation produces a dysfunctional enzyme, beta-glucocerebrosidase. Normally, this enzyme is involved in the process of lipid metabolism and breaks down a lipid, called glucocerebroside, into glucose and fat molecules. In the absence of this enzyme, glucocerebroside accumulates in the body cells, particularly in white blood cells, monocytes and macrophages.  

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• Genetics of Gaucher disease
• Types of Gaucher disease and prevalence in different ethnic groups
• Signs and symptoms

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