Disorders of Purine and Pyrimidine Metabolism

  • G. van den Berghe
  • M.-F. Vincent
  • S. Marie


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.


Uric Acid Orotic Acid Purine Nucleoside Phosphorylase Pyrimidine Metabolism Adenosine Deaminase Deficiency 
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© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • G. van den Berghe
  • M.-F. Vincent
  • S. Marie

There are no affiliations available

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