Gaucher's disease is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs.
Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid β-glucosidase). The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, the substance accumulates, particularly in cells of the mononuclear cell lineage. Fatty material can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females.
Some forms of Gaucher's disease may be treated with enzyme replacement therapy. It is named after the French doctor Philippe Gaucher, who originally described it in 1882. A study of 1525 Gaucher patients in the United States suggested that while cancer risk is not elevated, particular malignancies (non-Hodgkin lymphoma, melanoma and pancreatic cancer) occurred at a 2-3 times higher rate.
The disease was first recognised by the French doctor Philippe Gaucher, who originally described it in 1882 and lent his name to the condition. The biochemical basis for the disease would be elucidated in 1965. The first effective treatment for the disease, the drug Ceredase, was approved by the FDA in June 1995. An improved drug, Cerezyme, was approved by the FDA in 2001 and has replaced the use of Ceredase.
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