Tay-Sachs Disease

Abstract

A fluorometric method showed the activity of hexosaminidase A in human serum to be markedly deficient in serum specimens from nine patients with Tay–Sachs disease. Parents (obligate heterozygotes) of children with Tay–Sachs disease had levels of hexosaminidase A that were intermediate between those found in affected children and those in control subjects. No overlap was found between values for this enzyme in serums from heterozygotes, healthy controls and homozygotes. Hexosaminidase A activity was not reduced in the serum of children with related disorders (Gaucher's disease, Hunter's and Hurler's syndromes, metachromatic leukodystrophy and juvenile amaurotic familial idiocy), indicating the value of the assay in the differential diagnosis of infantile cerebral degenerative disorders. Although preliminary, the results suggest that the assay may be useful in the detection of persons who are heterozygous for the gene for Tay–Sachs disease.