Gaucher Disease

Alternate Names : Beta-Glucosidase Deficiency, Juvenile Gaucher Disease, Infantile Gaucher Disaese

What can be done to prevent the disease?

Nothing can be done to prevent Gaucher disease in someone who has already been born. Genetic testing can determine whether someone has the gene that causes Gaucher disease. Genetic counseling may be useful for couples with a family history of Gaucher disease.

What are the long-term effects of the disease?

The severe form of Gaucher disease starts in early childhood. This form usually causes death from brain involvement. In the more common, milder form, the long-term effects are low blood counts, bone disease, and an enlarged spleen.

What are the risks to others?

Gaucher disease is not contagious. It is an autosomal recessive disorder. This means that a person must inherit the gene from both parents. Parents who have had a child with Gaucher disease are at risk for having other affected children.