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Purine Metabolism in Man-IV

Part A: Clinical and Therapeutic Aspects; Regulatory Mechanisms

  • Book
  • © 1984

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Editors:
  1. Chris H. M. M. Bruyn

    1. University of Nijmegen Faculty of Medicine, Nijmegen, The Netherlands

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  2. H. Anne Simmonds

    1. Guy’s Hospital Medical School, London, UK

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  3. Mathias M. Müller

    1. University of Vienna, Vienna, Austria

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Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 165)

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Table of contents (105 chapters)

  1. Front Matter

    Pages i-xvii
    Download chapter PDF

  2. Recent Advances in Diagnosis and Treatment of Purine and Pyrimidine Disorders

    1. Phosphoribosyltransferase Deficiencies

      1. Problems in Diagnosis and Treatment of Adenine and Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
        • M. J. Dillon, H. A. Simmonds, T. M. Barratt, L. D. Fairbanks, P. C. Holland
        Pages 1-6
      2. Problems of Diagnosis in an Adolescent with Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency and Acute Renal Failure
        • J. S. Cameron, H. A. Simmonds, D. R. Webster, V. Wass, A. Sahota
        Pages 7-12
      3. Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPRT) Deficiency in a Girl
        • N. Ogasawara, S. Kashiwamata, H. Oishi, K. Hara, K. Watanabe, S. Miyazaki et al.
        Pages 13-18
      4. Clinical and Biochemical Correlates of A New HPRT Mutation
        • H. E. Gruber, M. Vuchinich, T. A. Marlow, M. M. Plent, R. C. Willis, J. E. Seegmiller et al.
        Pages 19-22
      5. Enzyme Replacement in the Lesch-Nyhan Syndrome with Long-Term Erythrocyte Transfusions
        • N. Lawrence Edwards, Walter Jeryc, Irving H. Fox
        Pages 23-26
      6. Adeninephosphoribosyltransferase (APRT)-Activity in Patients with Nephrolithiasis or Renal Failure
        • P. Banholzer, W. Gröbner, W. Löffler, S. Reiter, N. Zöllner
        Pages 27-31

    2. Adenosine Deaminase Deficiency

      1. New Perspectives in the Diagnosis and Treatment of Adenosine Deaminase (ADA) Deficiency
        • R. J. Levinsky, E. G. Davies, H. A. Simmonds, D. R. Webster, M. Adinolfi
        Pages 33-38
      2. Intravenous Deoxycytidine Therapy in a Patient with Adenosine Deaminase Deficiency
        • Morton J. Cowan, David W. Martin Jr., Diane W. Wara, Arthur J. Ammann
        Pages 39-45
      3. Properties of a Novel PEG Derivative of Calf Adenosine Deaminase
        • Charles Beauchamp, Peter E. Daddona, David P. Menapace
        Pages 47-52

    3. Purine Nucleoside Phosphorylase Deficiency

      1. Purine Nucleoside Phosphorylase (PNP) Deficiency: A Therapeutic Challenge
        • A. R. Watson, H. A. Simmonds, D. R. Webster, L. Layward, D. I. K. Evans
        Pages 53-59
      2. The Effect of Deoxycytidine and Tetrahydrouridine in Purine Nucleoside Phosphorylase Deficiency
        • J. W. Stoop, B. J. M. Zegers, L. J. M. Spaapen, W. Kuis, J. J. Roord, G. T. Rijkers et al.
        Pages 61-66

    4. Ecto-5′-Nucleotidase Deficiency

      1. Lymphocyte Ecto 5′-Nucleotidase in Immunodeficiency and Leukaemia
        • A. D. B. Webster, T. Shah, T. J. Peters
        Pages 67-72

    5. Xanthine Oxidase Deficiency

      1. Clinicobiochemical Analysis of Four Cases of Xanthine Oxidase Deficiency
        • K. Nishioka, H. Yamanaka, T. Nishina, T. Hosoya, K. Mikanagi
        Pages 73-76

    6. Myoadenylate Deaminase Deficiency

      1. Human Myoadenylate Deaminase Deficiency
        • William N. Fishbein
        Pages 77-84
      2. Myoadenylate Deaminase Deficiency: An Enzyme Defect in Search of a Disease
        • E. Joosten, C. van Bennekom, F. Oerlemans, C. De Bruyn, T. Oei, J. Trijbels
        Pages 85-89

    7. Phosphoribosylpyrophosphate Synthetase Mutants

      1. Phosphoribosylpyrophosphate Synthetase Superactivity: Detection, Characterization of Underlying Defects, and Treatment
        • Michael A. Becker
        Pages 91-96
      2. Evidence of A New Syndrome Involving Hereditary Uric Acid Overproduction, Neurological Complications and Deafness
        • H. A. Simmonds, D. R. Webster, J. Wilson, C. F. Potter, L. D. Fairbanks
        Pages 97-102

    8. Defects of Pyrimidine Metabolism

      1. Diagnostic and Therapeutic Approaches in Pyrimidine 5′-Nucleotidase Deficiency
        • E. H. Harley, P. Berman
        Pages 103-108
      2. New Defects of Pyrimidine Metabolism
        • S. K. Wadman, F. A. Beemer, P. K. de Bree, M. Duran, A. H. van Gennip, D. Ketting et al.
        Pages 109-114
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Keywords

About this book

These two volumes, entitled "Purine Metabolism in Man IV" con­ tain the paper presented at the "IV. International Symposium on Human Purine and Pyrimidine Metabolism," held in Maastricht (The Netherlands), June 1982. The proceedings of the three previous meet­ ings in Tel Aviv (Israel, 1973), Baden (Austria, 1976) and Madrid (Spain, 1979) were also published by Plenum Press. In the past few years interest in purine and pyrimidine metabo­ lism under normal and pathological conditions has been growing rapid­ ly. Apart from the more or less classical topics such as hyperuricae­ mia, clinical gout and urolithiasis, an increasing number of papers relating to other fields have been presented at successive meetings. Knowledge derived from the study of purine metabolism in relation to lymphocyte function, for instance, has opened up new possibilities for immunomodulation and leukaemia chemotherapy, with eventual conse­ quences for other types of cancer. At previous meetings there have been pointers implicating purine metabolism in relation to normal cardiac and skeletal muscle function. During the present meeting much new data on both issues have been re­ ported which indicate clear differences in the pathways of ATP metabo­ lism. The widening of the field of interest is also illustrated by the recent work on infectious disease: exploitation of the differences in purine metabolic pathways in certain parasites compared with those in human cells has resulted in new rationales for therapy being devel­ oped.

Editors and Affiliations

  • University of Nijmegen Faculty of Medicine, Nijmegen, The Netherlands

    Chris H. M. M. Bruyn

  • Guy’s Hospital Medical School, London, UK

    H. Anne Simmonds

  • University of Vienna, Vienna, Austria

    Mathias M. Müller

Bibliographic Information

  • Book Title: Purine Metabolism in Man-IV

  • Book Subtitle: Part A: Clinical and Therapeutic Aspects; Regulatory Mechanisms

  • Editors: Chris H. M. M. Bruyn, H. Anne Simmonds, Mathias M. Müller

  • Series Title: Advances in Experimental Medicine and Biology

  • DOI: https://doi.org/10.1007/978-1-4684-4553-4

  • Publisher: Springer New York, NY

  • eBook Packages: Springer Book Archive

  • Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature 1984

  • Softcover ISBN: 978-1-4684-4555-8Published: 22 December 2012

  • eBook ISBN: 978-1-4684-4553-4Published: 06 December 2012

  • Series ISSN: 0065-2598

  • Series E-ISSN: 2214-8019

  • Edition Number: 1

  • Number of Pages: XVII, 555

  • Topics: Biochemistry, general, Metabolomics

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