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Disorders of Purine and Pyrimidine Metabolism

  • Chapter
Inborn Metabolic Diseases

Summary

Inborn errors of purine and pyrimidine metabolism manifest themselves by a variety of clinical pictures. Table I gives a list of the major presenting signs and laboratory results that should lead to further investigations to rule out or to confirm the diagnostic possibilities listed. All inborn errors of purine and pyrimidine metabolism are very rare. Their recognition is, nevertheless, important for the provision of both appropriate treatment and genetic counseling. Some of the enzyme defects are benign but several have severe, life-threatening or devastating consequences. Whereas some of the disorders are amenable to treatment, others remain beyond the presently available therapeutic possibilities.

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Authors
  1. G. van den Berghe
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Editors and Affiliations

  1. Department of Pediatrics, University Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  2. Clinique de Génétique Médicale, Hôpital des Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  3. Department of Pediatrics, Tohoku University, School of Medicine, 1-1 Seiryo-machi, Sendai 980, Japan

    Keiya Tada M. D. (Professor of Pediatrics) (Professor of Pediatrics)

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© 1990 Springer-Verlag Berlin Heidelberg

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van den Berghe, G. (1990). Disorders of Purine and Pyrimidine Metabolism. In: Fernandes, J., Saudubray, JM., Tada, K. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02613-7_35

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  • DOI: https://doi.org/10.1007/978-3-662-02613-7_35

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-02615-1

  • Online ISBN: 978-3-662-02613-7

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