Generalized Gangliosidosis: Beta-Galactosidase Deficiency

  • Shintaro Okada
    Department of Pathology, University of Southern California School of Medicine, Los Angeles
  • John S. O'Brien
    Department of Pathology, University of Southern California School of Medicine, Los Angeles

抄録

<jats:p> A profound deficiency (10- to 30-fold) of β-galactosidase activity was found in tissues (liver, spleen, kidney, and brain) from two patients with generalized gangliosidosis; this deficiency is demonstrated as a failure to cleave both <jats:italic>p</jats:italic> -nitrophenyl-β-D-galactopyranoside and ganglioside GM <jats:sub>1</jats:sub> labeled with C <jats:sup>14</jats:sup> in the terminal galactose. We believe that this enzymic defect is responsible for the accumulation of ganglioside GM <jats:sub>1</jats:sub> and is the fundamental enzyme defect in generalized gangliosidosis. </jats:p>

収録刊行物

  • Science

    Science 160 (3831), 1002-1004, 1968-05-31

    American Association for the Advancement of Science (AAAS)

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