Tay–Sachs disease is inherited from asymptomatic carrier parents and is, therefore, an autosomal recessive disorder. The defective gene produces a protein, specifically an enzyme, that is important for speeding up a specific biochemical reaction. The enzyme, hexosaminidase A (Hex-A) and the defective activity leads to the accumulation of the substrate (precursor) it breaksdown called GM2 ga…
In 1969, a nationwide screening program to identify carriers was initiated in the United States. Patients and carriers can be indentified by a simple blood test that measures Hex-A activity. The results of screening and educational programs were extraordinarily successful. In 1970, the number of children born in the United States with Tay-Sachs disease dropped from 100 to 50; in 1980, the number d…
Unfortunately, a clinically available treatment regimen currently does not exist. Some researchers have attempted to develop novel treatments for Tay-Sachs disease, but these attempts have not proven successful in most cases. Many laboratories around the world are investigating the utility of enzyme replacement therapy to deliver Hex-A to the brain. This technique provides only temporary therapy a…
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