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Monday, February 28, 2011

"Gaucher's disease"

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.[1]It is caused by a hereditary deficiency of the enzyme glucocerebrosidase(also known as acid B-glucosidase).The enzyme acts on a fatty substance glucocerebroside(also known glucosylceramide).When the enzyme is defective,glucocerebroside accumulates,particularly in white blood cells(mononuclear leukocytes).Glucocerebroside can collect in the spleen,liver,kidneys,lungs,brain and bone narrow.Symptoms may include enlarged spleen and liver,liver malfunction,skeletal disorders and bone lesions that may be painful,severe neurologic complications,swelling of lymp nodes and (occasionally)adjacent joints,distended abdomen,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.Some forms of Gaucher's disease may be treated with enzyme replacement therapy.The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females.About 1 in 100 people in the United States are carriers of Gaucher disease, while the carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450. [2]The disease is named after the French docter Philippe Gaucher,who originally described it in 1882.[3]                                                                                                                                                                                                                                                           

2 comments:

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