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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Gaucher disease, Gaucher disease, types 2-5.
- Gaucher disease, types 2-5
A series of diseases due to glucocerebrosidase deficiency and accumulation of glucocerebroside in cells. By comparison with type 1 Gaucher disease, these are far less frequent forms of Gaucher disease. Types 2 and 3 Gaucher disease are characterized by primary neurologic disease including profound involvement of the brain. The onset of symptoms is before age […]
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