Glucocerebrosidase deficiency; Glucosylceramidase deficiency
Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.
For more information contact:
- Childrens Gauchers Disease Research Fund: www.childrensgaucher.org
- National Gaucher Foundation: www.gaucherdisease.org
How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.
Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.
- Bone problems