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familial amaurotic idiocy

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Tay-Sachs disease is a condition caused by an inborn error of metabolism where there is a deficiency in the enzyme hexosaminidase A, which splits the terminal N- acetylgalactosamine residue from GM2 ganglioside.

The disease is particularly common in the Ashkenazi Jewish population, where it has an incidence of 1 in 3 - 4000 births. It is a hundred times less frequent in other racial groups. Inheritance is autosomal recessive with the disrupted locus on chromosome 15.

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