Tay-Sachs Disease: Generalized Absence of a Beta-D- <i>N</i> -Acetylhexosaminidase Component

DOI Web Site 5 Citations
  • Shintaro Okada
    Department of Neurosciences, School of Medicine, University of California at San Diego, La Jolla 92037
  • John S. O'Brien
    Department of Neurosciences, School of Medicine, University of California at San Diego, La Jolla 92037

Abstract

<jats:p> Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D- <jats:italic>N</jats:italic> -acetylglucosaminidase and β-D- <jats:italic>N</jats:italic> -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. </jats:p>

Journal

  • Science

    Science 165 (3894), 698-700, 1969-08-15

    American Association for the Advancement of Science (AAAS)

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