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Papers > Science > Tay Sachs A Deadly Disease
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1. Taysachs disease
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Tay Sachs A Deadly Disease |
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Tay-Sachs Disease Tay-Sachs is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. ... Tay-Sachs is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. ... In most cases, the disease is not found or started until the infant is about six months of age. The enzyme involved in Tay-Sachs is called hexosaminidase. ... The enzyme involved in Tay-Sachs is called hexosaminidase The absence of the enzyme allows a lipid called GM 2 ganglioside to build up in the brain, destroying the nerve cells. The process starts in the fetus; the disease is clinically apparent in the first few months of life. ... Patients with Tay-Sachs have a “cherry red” spot in the back of their eyes Tay-Sachs is an autosomal recessive disorder; a person must have two defective genes (one form each parent) in order for the disease to occur. ... When both parents are carriers, each child has a 25% chance of getting the disease. If only one parent is the carrier, there is no chance that the child will get the disease but there is a 50% chance that the child will be a carrier. ... For this reason, plus the historical lack of accurate diagnosis and routinely high infant mortality of past generations, there is often no known family history of the disease. |
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Title: Tay Sachs A Deadly Disease
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