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The Clinical Chemistry of Variegate Porphyria with Special Reference to the Identification of a New Plasma-Marker Porphyrin

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Diagnosis and Therapy of Porphyrias and Lead Intoxication

Abstract

South Africa has the unenviable distinction of having the highest incidence in the world of variegate porphyria (VP) (South African genetic porphyria) (8), with an estimated incidence of approximately 9000 affected persons. How this remarkable situation has come about has been fully documented by Dean (5) in his monograph, which makes it clear that virtually all South African variegate prophyrics are descendants of a daughter of a marriage that took place at the Cape in 16 88 and all are, therefore, members of one huge family. We have investigated one of the four main lines of descent that, as is shown in Figure 1, extends over ten generations and conforms to the pattern of an autosomal dominantly inherited disorder of high expressivity and penetrance. The designation ’variegate,1 which was first applied by Barnes and Dean (1) aptly described the various forms that the disease assumes. They are summarized with their percentage incidence in Table 1.

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Authors and Affiliations

  1. Porphyria and Renal Metabolic Research Group, Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa

    L. Eales, R. S. Day & N. R. Pimstone

Authors
  1. L. Eales
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  2. R. S. Day
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  3. N. R. Pimstone
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Editor information

Editors and Affiliations

  1. Department of Clinical Biochemistry, Faculty of Medicine, Philipp University of Marburg, Pilgrimstein 2, D-3550, Marburg, Federal Republic of Germany

    Manfred Doss

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© 1978 Springer-Verlag Berlin Heidelberg

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Eales, L., Day, R.S., Pimstone, N.R. (1978). The Clinical Chemistry of Variegate Porphyria with Special Reference to the Identification of a New Plasma-Marker Porphyrin. In: Doss, M. (eds) Diagnosis and Therapy of Porphyrias and Lead Intoxication. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67002-2_7

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  • DOI: https://doi.org/10.1007/978-3-642-67002-2_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-08863-9

  • Online ISBN: 978-3-642-67002-2

  • eBook Packages: Springer Book Archive

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