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Disorders of Purine and Pyrimidine Metabolism

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Inborn Metabolic Diseases

Abstract

Inborn errors of the biosynthetic, catabolic and salvage pathways of purine and pyrimidine metabolism are depicted in Figs. 31.1 and 31.3, respectively. The major presenting signs and laboratory findings in these inborn errors are listed in Table 31.1.

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Authors
  1. G. van den Berghe
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  2. M.-F. Vincent
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  3. S. Marie
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Editor information

Editors and Affiliations

  1. Veldweg 87, 8051 NP, Hattem, The Netherlands

    John Fernandes (Professor Emeritus of Pediatrics) (Professor Emeritus of Pediatrics)

  2. Hospital Necker-Enfants Malades, 149 Rue de Sevres, 75743, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe (Christian de Duve) (Christian de Duve)

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van den Berghe, G., Vincent, MF., Marie, S. (2000). Disorders of Purine and Pyrimidine Metabolism. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_31

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_31

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  • Print ISBN: 978-3-662-04287-8

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