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Increased Purine Nucleotide Degradation in the Central Nervous System (CNS) in PRPP Synthetase Superactivity

  • Manuel L. Jiménez
  • Juan G. Puig
  • Felícitas A. Mateos
  • Teresa H. Ramos
  • Juan S. Melián
  • Victor G. Nieto
  • Michael A. Becker
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

Inherited superactivity of PRPP synthetase is an unusual cause of purine overproduction, hyperuricemia, gout and uric acid urolithiasis (1) that is seldom associated to neurological symptoms. We know of 3 reported families in which both hemizygous males and heterozygous females have had evidence of uric acid overproduction and neurological deficits, including sensorineural deafness (2–5).

Keywords

Uric Acid Serum Urate Purine Metabolism Sensorineural Deafness Hypoxanthine Phosphoribosyl Transferase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Manuel L. Jiménez
    • 1
  • Juan G. Puig
    • 1
  • Felícitas A. Mateos
    • 1
  • Teresa H. Ramos
    • 1
  • Juan S. Melián
    • 2
  • Victor G. Nieto
    • 2
  • Michael A. Becker
    • 3
  1. 1.Departments of Internal Medicine and Clinical Biochemistry“La Paz” Hospital, Universidad AutónomaMadridSpain
  2. 2.“La Candelaria” HospitalTenerifeSpain
  3. 3.University of ChicagoUSA

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