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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Selected Reading
Cogan DG, Kuwabara T (1959). Histochemistry of the retina in Tay-Sachs disease. Arch Ophthalmol 61: 414–423
Ghosh M, Hunter WS, Wedge C (1990). Corneal changes in Tay-Sachs disease. Can J Ophthalmol 25: 190–192
Kivlin JD, Sanborn GE, Meyers GG (1985). The cherry-red spot in Tay-Sachs and other storage diseases. Ann Neurol 17: 356–360
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 1993 Springer Science+Business Media New York
About this chapter
Cite this chapter
Orellana, J., Friedman, A.H. (1993). Tay-Sachs Disease. In: Clinico-Pathological Atlas of Congenital Fundus Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-9320-7_61
Download citation
DOI: https://doi.org/10.1007/978-1-4613-9320-7_61
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4613-9322-1
Online ISBN: 978-1-4613-9320-7
eBook Packages: Springer Book Archive