Glucocerebrosidase deficiency; Glucosylceramidase deficiency
Definition of Gaucher disease
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.
Causes, incidence, and risk factors
Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.
Symptoms vary depending on the type of disease, but may include:
Signs and tests
The doctor will perform a physical exam. The patient may have signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.
Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.
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.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 11/12/2010