Disorders of Purine and Pyrimidine Metabolism Basic and Clinical Considerations

  • J. Edwin Seegmiller


Substantial progress has been made in the identification of additional patients with known inborn errors of purine or pyrimidine metabolism and in the extension of our understanding of the pathogenetic mechanisms involved. Novel new associations of known diseases have been found, including patients with a combined clinical presentation of xanthinuria and sulfite oxidase deficiency (Duran et al., 1978, 1979). The two disorders are linked together by a presumed abnormality of metabolism or binding of the trace metal molybdenum required as a structural component of both enzymes. Evidence has been presented for the presence of increased free radicals of oxygen as the mediators of the “clastic activity,” producing chromosomal rearrangements and increased sister chromotid exchange in such diverse disorders as Bloom syndrome, ataxia telangectasia, and lupus erythematosus (Emerit and Cerutti, 1981).


Uric Acid Adenosine Deaminase Gouty Arthritis Orotic Acid Purine Nucleoside Phosphorylase 
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Copyright information

© Plenum Publishing Corporation 1982

Authors and Affiliations

  • J. Edwin Seegmiller
    • 1
  1. 1.Department of MedicineUniversity of California at San Diego School of MedicineLa JollaUSA

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