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

Shintaro Okada and John S. O'BrienAuthors Info & Affiliations
Science
15 Aug 1969
Vol 165, Issue 3894
pp. 698-700
DOI: 10.1126/science.165.3894.698
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Abstract

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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Science
Volume 165 | Issue 3894
15 August 1969

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© 1969.

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Published in print: 15 August 1969

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Authors

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Shintaro Okada
Department of Neurosciences, School of Medicine, University of California at San Diego, La Jolla 92037
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John S. O'Brien
Department of Neurosciences, School of Medicine, University of California at San Diego, La Jolla 92037
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  • Shintaro Okada,
  • John S. O'Brien
,
Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component.Science165,698-700(1969).DOI:10.1126/science.165.3894.698

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