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Our Gaucher disease Main Article provides a comprehensive look at the who, what, when and how of Gaucher disease

Definition of Gaucher disease

Gaucher disease: A series of 5 diseases due to deficient activity of the enzyme glucocerebrosidase, leading to accumulation of glucocerebroside in tissues of the body. The 5 types of Gaucher disease encompass a continuum of clinical findings from a lethal form before or just after birth to a form so mild that it may not be diagnosed until old age. All 5 types of Gaucher disease are inherited in an autosomal recessive manner.

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Last Editorial Review: 7/20/2002

Common Misspellings: gaucher diease, gaucher desease, gauchers disease, gauchers diease, gauchers desease

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