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Enzyme substitution by fibroblast transplantation

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Inborn Errors of Metabolism in Humans

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Abstract

The first inborn error of metabolism to be recognized was alcaptonuria, described by Garrod in 19081. He developed the concept that some diseases occur because an enzyme which controls a single metabolic step is entirely absent or has a greatly reduced activity. More than 330 such disorders have now been described2, more than 30 of which are lysosomal storage diseases.

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Authors
  1. M. F. Dean
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  2. H. Muir
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  3. P. F. Benson
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  4. L. R. Button
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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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Dean, M.F., Muir, H., Benson, P.F., Button, L.R. (1982). Enzyme substitution by fibroblast transplantation. In: Cockburn, F., Gitzelmann, R. (eds) Inborn Errors of Metabolism in Humans. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-7325-1_8

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  • DOI: https://doi.org/10.1007/978-94-009-7325-1_8

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-7327-5

  • Online ISBN: 978-94-009-7325-1

  • eBook Packages: Springer Book Archive

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