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Definition of «Gaucher disease»

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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.

See the entries also to:

  • Gaucher disease, type 1
  • Gaucher disease, types 2-5

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