Tay-Sachs
disease is a rare genetic disease in which the lack of the enzyme hexosaminidase A, involved in the metabolism of
brain lipids, causes a fatty substance called ganglioside to accumulate in nerve cells of the brain. The disease develops during infancy, primarily in Jewish babies, and leads to blindness, dementia, convulsions, extensive paralysis, and death, usually in 2 to 4 years. The Tay-Sachs gene, carried by 4% of American Jews of European heritage, must be present in both parents for the child to develop the disease. Prenatal tests such as amniocentesis and chorionic villus sampling allow detection of the disease before birth.
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