Encyclopedia Home / G / Gaucher disease

Gaucher disease

  • Alternative Names

    Glucocerebrosidase deficiency; Glucosylceramidase deficiency


    Treatment

    Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.


    Support Groups

    For more information contact:


    Expectations (prognosis)

    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.


    Complications
    • Seizures
    • Anemia
    • Thrombocytopenia
    • Bone problems