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Pramod Mistry, MD, PhD, Professor of Medicine at Yale University School of Medicine, provides an overview on how persons with Gaucher disease type 3 are managed. Gaucher disease is a rare lysosomal disorder due to reduced levels of glucocerebrosidase that leads to the accumulation of glucocerebroside in cells and certain organs. There are three types of Gaucher disease – type 1, 2, and 3. Gaucher disease type 3 mostly impacts the periphery (like Gaucher disease type 1) but also can impact the brain. The symptoms of Gaucher disease type 1 and type 3 can include enlargement of the liver and spleen, anemia, thrombocytopenia (low platelet count), bone pain and fractures. Persons with Gaucher disease type 3 may also show cognitive impairment, eye problems, seizures, and/or a loss of coordination. ERT is the standard of care for both Gaucher disease type 1 and 3, however that treatment cannot cross the blood brain barrier. As discussed by Dr. Mistry, splenectomy was used to treat persons with Gaucher disease type 3 in the 1990s but it was soon discovered that worsens the disease. Soon thereafter, enzyme replacement therapy was used in type 3 and that has allowed these children to grow into adulthood but they do still have a variety of neurological and behavioral symptoms.