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Tay-Sachs Disease

  • Juan Orellana
  • Alan H. Friedman

Abstract

Tay-Sachs disease, which is inherited in an autosomal recessive manner, is a fatal disease. It is characterized by the absence or deficiency of the enzyme hexosaminidase A. This biochemical defect results in an abnormal deposition of gangliosidase in the central nervous system and the liver. Statistically, it is common in Ashkenazic Jews, and the carrier state for the disease may be 1 in every 30 Jewish people. It has also been reported in children of French-Canadian ancestry. It is possible to assay the levels of the enzyme in amniotic fluid; and, as such, it is commonly tested for when amniocentesis is performed.

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Selected Reading

  1. Cogan DG, Kuwabara T (1959). Histochemistry of the retina in Tay-Sachs disease. Arch Ophthalmol 61: 414–423CrossRefGoogle Scholar
  2. Ghosh M, Hunter WS, Wedge C (1990). Corneal changes in Tay-Sachs disease. Can J Ophthalmol 25: 190–192PubMedGoogle Scholar
  3. Kivlin JD, Sanborn GE, Meyers GG (1985). The cherry-red spot in Tay-Sachs and other storage diseases. Ann Neurol 17: 356–360PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1993

Authors and Affiliations

  • Juan Orellana
    • 1
  • Alan H. Friedman
    • 1
  1. 1.Mount Sinai School of MedicineNew YorkUSA

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