Tay-Sachs disease
Last reviewed 01/2018
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.
