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Gaucher disease is a genetic disorder in which glucocerebroside (a sphingolipid , also known as glucosylceramide) , accumulates in cells and certain organs. The disorder is characterized by bruising , fatigue, anemia , low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.
When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.
Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelet count, and yellow fatty deposits on the white of the eye (sclera). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.
The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. About one in 100 people in the United States are carriers of the most common type of Gaucher disease.
Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphinglipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids.
The disease is named after the French physician Philippe Gaucher, who originally described it in 1882