Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component

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Science  15 Aug 1969:
Vol. 165, Issue 3894, pp. 698-700
DOI: 10.1126/science.165.3894.698


Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D-N-acetylglucosaminidase and β-D-N-acetylgalactosaminidase activity, are present in human tissues. One of these, hexosaminidase component A, is absent in brain, liver, kidney, skin, cultured skin fibroblasts, blood plasma, and leukocytes from nine patients with Tay-Sachs disease. Hexosaminidase assay may facilitate the early diagnosis of individuals homozygous for Tay-Sachs disease.

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