Tay Sachs Disease

Tay-Sachs disease (TSD) is the best known of the sphingolipidoses, a group of genetic disorders that includes Niemann-Pick disease, Gaucher's disease, and others. Specifically, TSD is GM2 (beta) gangliosidosis, an autosomal recessive disease with complete penetrance. Affected individuals (recessive homo-zygotes) produce virtually no functional hexosaminidase A (hex A), an enzyme necessary for normal neurological development and function. TSD is very rare in most populations, but is, overall, about 100 times more prevalent among Ashkenazi Jews. This indicates that the TSD gene frequency is about 10 times higher in the Ashkenazi Jewish population. Persons with the disease usually show clinical symptoms of neurological degeneration by 6 months of age. Their condition steadily deteriorates, and they seldom live beyond the age of 4 years. There is no cure, but heterozygous "carriers" of the defective gene can be identified by clinical test, and amniocentesis can detect an affected fetus.

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