Identification of Tay-Sachs Genotypes by Hexosaminidase Analysis of Urine and Tear Samples

  • Abraham Saifer
  • June Amoroso
  • Guta Perle
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 68)


The absence of N-acetyl-β-D-hexosaminidase A (Hex A, EC activity in the body fluids and tissues of patients with Tay-Sachs disease (TSD) (1,2) results in the cerebral accumulation of the GM2-ganglioside [N-acetylgalactosaminyl -(N-acetylneuraminyl)-galactosylglucosyl-ceramide] (3) and is responsible for all the clinical symptoms and pathological findings in the disease (4,5). TSD is a prototype representative of many other hereditary disorders (6).


Fabry Disease Normal Pregnancy Heat Denaturation Isoenzyme Pattern Normal Pregnant Woman 
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Copyright information

© Plenum Press, New York 1976

Authors and Affiliations

  • Abraham Saifer
    • 1
  • June Amoroso
    • 1
  • Guta Perle
    • 1
  1. 1.Department of BiochemistryIsaac Albert Research Institute of the Kingsbrook Jewish Medical CenterBrooklynUSA

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