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Gaucher's Disease

Gaucher's Disease is an inherited lipid metabolism disorder characterized by an abnormal accumulation of glucosylceramide in the liver, spleen, bones, lungs and brain. It is caused by a deficiency in the enzyme, glucocerebrosidase. There are three different types of Gaucher's Disease, each of which generally present in infancy or childhood. Type 1 is most common, comprising 95 percent of all diagnoses. Generally, incidence is estimated at 1 in 60,000; in Ashkenazi Jews, incidence rates are estimated at 1 in 500 to 1 in 1,000. Liver and spleen enlargement, blood abnormalities, bone lesions and bone pain are among the clinical presentations. Type 2 occurs in less the 1 in 100,000 newborns and appears in all ethnic groups. Liver and spleen enlargement and neurologic degeneration mark this disease as well as impaired eye movement. Type 3 is also referred to as the Norrbottnian form because it is often seen in people of Swedish decent. This condition usually appears before age 10, but can present in adulthood. Liver and spleen enlargement are early manifestations; neurologic abnormalities and seizures are among the spectrum of symptoms that follow.