Problem
Gaucher's disease
Other Names:
Gaucher disease Nature:
A lipid storage disease linked to a single recessive gene particularly common in Jews of Eastern European ancestry. Gaucher disease results from a specific enzyme deficiency in the body, caused by a genetic mutation received from both parents. The disease course is quite variable, ranging from no outward symptoms to severe disability and death.
Broader Problems:
Congenital disorders of lipid metabolism Aggravates:
Diseases of the spleenAvascular necrosis Reduced By:
Genetic discriminationStrategies:
Using genetic screening Organizations:
International Patient Advocacy Association Problem Type:
E: Emanations of other problems Date of last update
04.10.2020 – 22:48 CEST