Definition of Gaucher disease

Reviewed on 3/29/2021

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

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