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Tay Sachs disease is a lipid storage disease (sphingolipidosis) affecting the nervous system. The mode of inheritance is autosomal recessive with an incidence of 1 in 3600 and a carrier frequency of 3% in the Ashkenazi Jewish population. It is characterized by apathy, hypotonia and delayed psychomotor development. Affected children may show an exaggerated startle response to noise. There is progressive neurological deterioration with eventual vegetative state and death at about 5 years of age. It is due to a deficiency of hexoaminidase A. The mutation is in a gene coding for a subunit of the enzyme b-hexoaminidase on chromosome 15.
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