CARRIER DETECTION IN SANDHOFF DISEASE

  • 1 January 1978
    • journal article
    • research article
    • Vol. 30  (1) , 38-45
Abstract
Three new cases of Sandhoff disease are reported. One infant was the 2nd affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan [Canada]. Total and heat-stable hexosaminidases were assayed in 38 other members of the kindred; 2 distinct cohorts were found. Sixteen individuals had low total and low heat-stable hexosaminidase and were diagnosed as carriers of Sandhoff disease. The values for the remainder were within normal limits. In a retrospective study of data from more than 14,000 Ashkenazi Jews, who were screened for Tay-Sachs disease, 6 were identified as Sandhoff carriers. Carrier detection apparently requires measurement of both total and heat-stable enzyme activity.