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 2 in both types 2 and 3 with death by age 2 to 4 in type 2 and a more slowly progressive course with survival into the third or fourth decade in type 3. Types 2 and 3 are collectively known as infantile cerebral Gaucher disease.
See the entries also to:
- Gaucher disease
- Gaucher disease, type 1