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Gaucher disease

  • Definition

    Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.


    Alternative Names

    Glucocerebrosidase deficiency; Glucosylceramidase deficiency


    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.

    It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier.

    The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly.

    There are three main subtypes of Gaucher disease:

    • Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in the Ashkenazi Jewish population.
    • Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
    • Type 3 disease may cause liver, spleen, and brain problems. Patients may live into adulthood.