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Prospects for enzyme replacement therapy in heritable metabolic disorders

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Book cover Inborn Errors of Metabolism in Humans

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Abstract

Since the discovery that insufficient activity of lipid catabolizing enzymes formed the basis of heritable lipid-storage disorders, a number of therapeutic strategies have been suggested1. Approaches to the treatment of such disorders included:

  1. (1)

    enzyme supplementation by implantation of normal or hybridized (corrected) patient cells;

  2. (2)

    organ transplantation;

  3. (3)

    administration of purified enzymes;

  4. (4)

    activation of catalytically defective mutated enzymes by allosteric agents; and

  5. (5)

    administration of appropriate messenger RNA or DNA cistrons2.

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Authors
  1. R. O. Brady
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  2. J. A. Barranger
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  3. P. G. Pentchev
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  4. F. S. Furbish
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  5. A. E. Gal
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Editor information

Editors and Affiliations

  1. University Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, G3 8SJ, UK

    Forrester Cockburn

  2. Division of Metabolism, University Paediatric Department, Kinderspital, 8032, Zurich, Switzerland

    Richard Gitzelmann

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© 1982 The Society for the Study of Inborn Errors of Metabolism

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Brady, R.O., Barranger, J.A., Pentchev, P.G., Furbish, F.S., Gal, A.E. (1982). Prospects for enzyme replacement therapy in heritable metabolic disorders. In: Cockburn, F., Gitzelmann, R. (eds) Inborn Errors of Metabolism in Humans. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-7325-1_10

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  • DOI: https://doi.org/10.1007/978-94-009-7325-1_10

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