Hypoxanthine-guanine, phosphoribosyltransferase

Reference work entry
DOI: https://doi.org/10.1007/3-540-29662-X_1314

Synonyms

HPRT.

Definition

Enzyme which catalyses the "salvage" reactions of free purine bases hypoxanthine and guanine with PRPP to form their respective mononucleotides.

Full Text

Deficiency of the enzyme leads to under utilization of PRPP, an excess of which drives, through complex purine interconversions, the formation of supernormal amounts of hypoxanthine and xanthine, the precursors of uric acid. More than 200 different mutations have been described, leading to overproduction of uric acid, and its complications alone, or to hyperuricemia with unexplained neurological and behavioral disturbances. (See Lesch-Nyhan syndrome)

References

  1. Becker MA, Levinson DJ (1997) Clinical gout and the pathogenesis of hyperuricemia. In: Koopman WJ (ed) Arthritis and Allied Conditions. A Textbook of Rheumatology. Williams & Wilkins, Baltimore, pp 2041–71Google Scholar
  2. Brooks EM, Branda RF, Nicklas JA, O'Neill JP (2001) Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease. Mutat Res 476:43–54PubMedGoogle Scholar
  3. Cossu A, Micheli V, Jacomelli G, Carcassi A (2002) Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency. Clin Exp Rheumatol 20:851–3PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2004