Abstract
Partial deficiency of HPRT (EC 2.4.2.8.) is one of the enzyme defects causing hyperuricemia and gout. The most obvious explanation for this phenomenon is the reduced activity of the salvage pathway with increased degradation of hypoxanthine and xanthine into uric acid. Since the salvage reactions consume PRPP, HPRT deficiency results in an accumulation of PRPP which further activates the purine nucleotide synthesis de novo and ultimately increases uric acid formation.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
I. Hisatome I, H. Kitamura H, M. Saito et al, Excess release of hypoxanthine from exercising muscle in two gout patients with partial HGPRTase deficiency: Lack of ammonium release. Am. J. Med. 90: 533–535 (1991).
J.M. Lowenstein JM, Ammonia production in muscle and other tissues: the purine nucleotide cycle. Physiol Review 52: 382–414 (1972).
M.N. Goodman, J.M. Lowenstein, The purine nucleotide cycle. Studies of ammonia production by skeletal muscle in situ and in perfused preparations. J. Biol. Chem. 252: 5054–5060 (1977).
R.A. Harkness, R.J. Simmonds, S.B. Coade, Purine transport and metabolism in man: the effect of exercise on concentrations of purine bases, nucleosides and nucleotides in plasma, urine, leucocytes and erythrocytes. Clin. Sci. 64: 333–340 (1983).
V. Schultz, J.M. Lowenstein, Purine nucleotide cycle. Evidence for the occurrence of the cycle in brain. J. Biol. Chem. 251: 485–492 (1976).
G. Schopf, M. Havel, R. Fasol, M.M. Müller, Enzyme activities of purine catabolism and salvage in human muscle tissue. Adv. Exp. Med. Biol. 195B: 507–509 (1986).
Jacobs AEM, Oosterhof A, Veerkamp JH. Purine and pyrimidine metabolism in human muscle and cultured muscle cells. Biochim. Biophys. Acta 970: 130–136 (1988).
V.H. Patterson, K.K. Kaiser, M.H. Brooke MH, Exercising muscle does not produce hypoxanthine in adenylate deaminase deficiency. Neurology 33: 784–786 (1983).
W.N. Fishbein, Human myoadenylate deaminase deficiency. Adv. Exp. Med. Biol 165A: 77–84 (1984).
J.G. Puig, M.L. Jiménez, F.A. Mateos, I.H. Fox, Adenine nucleotide turnover in hypoxanthine-guanine phosphoribosyl-transferase deficiency: evidence for an increased contribution of purine biosynthesis de novo. Metabolism 38: 410–418 (1989).
J.G. Puig, F.A. Mateos, M.L. Jiménez, T.H. Ramos, Renal excretion of hypoxanthine and xanthine in primary gout. Am. J: Med. 85: 533–537 (1988).
C. Lartigue-Mattei, J.L. Chabard, J.M. Ristori et al, Kinetics of allopurinol and its metabolite oxy-purinol after oral administration of allopurinol alone or associated with benzbromarone in man. Simultaneous assay of hypoxanthine and xanthine by gas chromatography-mass spectrometry. Fundam. Clin. Pharmacol. 5: 621–633 (1991).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1995 Springer Science+Business Media New York
About this chapter
Cite this chapter
Gross, M., Gathof, B.S., Gresser, U. (1995). Normal Hypoxanthine and Ammonia Release from Working Muscle in Partial HPRT Deficiency. In: Sahota, A., Taylor, M.W. (eds) Purine and Pyrimidine Metabolism in Man VIII. Advances in Experimental Medicine and Biology, vol 370. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2584-4_74
Download citation
DOI: https://doi.org/10.1007/978-1-4615-2584-4_74
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-6105-3
Online ISBN: 978-1-4615-2584-4
eBook Packages: Springer Book Archive