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Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene

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Summary

A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygotes for adjacent base transitions in the same codon in exon 10 of the PBG deaminase gene.

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Authors and Affiliations

  1. Department of Medical Biochemistry, University of Wales College of Medicine, CF4 4XN, Heath Park, Cardiff, UK

    D. H. Llewellyn, S. J. Smyth & G. H. Elder

  2. Department of Clinical Chemistry, Royal Hallamshire Hospital, S10 2JF, Sheffield, UK

    A. C. Hutchesson

  3. Childrens' Hospital, Western Bank, S10 2TH, Sheffield, UK

    J. M. Rattenbury & M. F. Smith

Authors
  1. D. H. Llewellyn
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  2. S. J. Smyth
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  3. G. H. Elder
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  4. A. C. Hutchesson
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  5. J. M. Rattenbury
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  6. M. F. Smith
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Llewellyn, D.H., Smyth, S.J., Elder, G.H. et al. Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. Hum Genet 89, 97–98 (1992). https://doi.org/10.1007/BF00207051

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  • DOI: https://doi.org/10.1007/BF00207051

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