Simple Screening Methods for Disorders of Purine Metabolism Using Dried Blood and or Urine Spots on Filter Paper

  • Y. Nishida
  • F. Takeuchi
  • T. Miyamoto
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)


Hypoxanthine-guanine phosphoribosyltransferase (HGPRT; E. and adenine phosphoribosyltransferase (APRT; E. function in the metabolic salvage of purines. Complete absence of the activity of HGPRT leads to the Lesch-Nyhan Syndrome, characterised by severe developmental, neurological and behavioural abnormalities and gout.1, 2 Partial deficiencies of the enzyme cause hyperuricaemia and severe gout.3 On the other hand, complete deficiency of the enzyme APRT is associated with urinary stones composed of 2, 8-dihydroxyadenine (2, 8-DHA).4 Although these enzyme deficiencies are extremely rare, an early diagnosis is required to prevent the renal damage.5, 6 Among patients with urolithiasis, an increased incidence of APRT deficiency is proposed.7


Uric Acid High Pressure Liquid Chromatography Purine Nucleoside Phosphorylase Monobasic Potassium Phosphate Adenine Phosphoribosyltransferase 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    M. Lesch, and W.L. Nyhan, A familial disorder of uric acid metabolism and central nervous system function. Am J Med 36: 561 (1964).PubMedCrossRefGoogle Scholar
  2. 2.
    J.E. Seegmiller, F.M. Rosenbloom, W.N. Kelley, Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155: 1682 (1967).PubMedCrossRefGoogle Scholar
  3. 3.
    W.N. Kelley, F.M. Rosenbloom, J.F. Henderson, J.E. Seegmiller, A specific enzyme defect in gout associated with overproduction of uric acid. Proc Nat Acad Sci USA 57: 1735 (1967).PubMedCrossRefGoogle Scholar
  4. 4.
    H.A. Simmonds, K.J. van Acker, J.S. Cameron, W. Snedden, The identification of 2, 8-dihydroxyadenine, a new component of urinary stones. Biochem J 157: 485 (1976).PubMedGoogle Scholar
  5. 5.
    J.C. Crawhall, J.F. Henderson, W.N. Kelley, Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediat Res 6: 504 (1972).PubMedCrossRefGoogle Scholar
  6. 6.
    L.A. Johnson, R.B. Gordon, B.T. Emmerson, Adenine phosphoribosyl-transferase: A simple spectrophotometric assay and the incidence of mutation in the normal population. Biochem Genet 15: 265 (1977).PubMedCrossRefGoogle Scholar
  7. 7.
    M.H. Gault, H.A. Simmonds, W. Snedden, D. Donald, N.C. David, P. Harold, Urolithiasis due to 2-8-dihydroxyadenine in an adult. New Engl J Med 305: 1570 (1981).PubMedCrossRefGoogle Scholar
  8. 8.
    O.H. Lowry, N.J. Rosebrough, A.L. Farr, R.J. Randall, Protein measurement with the Folin phenol reagent. J Boil Chem 193: 265 (1951).Google Scholar
  9. 9.
    E.J. Coombes, T.R. Gamlen, G.F. Batstone, S.T. Holgate, The validation of a fluoroimmunoassay for the determination of theophylline concentration in dried blood spots suitable for domiciliary therapeutic drug monitoring. Clin Chim Acta 136: 187 (1984).PubMedCrossRefGoogle Scholar
  10. 10.
    E.J. Coombes, G.F. Batstone, T.R. Gamlen, T. Stickland, Improved substrate-labeled fluorescent immunoassay for theophylline in dried-blood spots on filter paper. Clin Chem 31: 151 (1985).PubMedGoogle Scholar
  11. 11.
    A.S. Abyholm, Determination of glucose in dried filter paper blood spots. Scand J Clin Lab Invest 41: 269 (1981).PubMedCrossRefGoogle Scholar
  12. 12.
    T.R. Gamlen, H.C. James, G.F. Batstone, The determination of blood spot glucose concentration using a rapid kinetic assay. Scand J Clin Lab Invest 42: 643 (1982).PubMedCrossRefGoogle Scholar
  13. 13.
    E.C. Moore, H.J. Meuwissen, Screening for ADA deficiency. J Pediatr 85: 802 (1974).PubMedCrossRefGoogle Scholar
  14. 14.
    K. Ito, N. Sakura, T. Usui, H. Uchino, Screening for primary immunodeficiencies associated with purine nucleoside phosphorylase deficiency or adenosine deaminase deficiency. J Lab Clin Med 90: 844 (1977).PubMedGoogle Scholar
  15. 15.
    W.Y. Fujimoto, M.L. Greene, J.E. Seegmiller, X-linked uric aciduria with neurological disease and self-mutilation: Diagnostic test for the enzyme defect. J Pediat 73: 920 (1968).PubMedCrossRefGoogle Scholar
  16. 16.
    J.M. Kaufman, M.L. Greene, J.E. Seegmiller, Urine uric acid to creatinine ratio — a screening test for inherited disorders of purine metabolism. J Pediat 73: 583 (1968).PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Y. Nishida
    • 1
  • F. Takeuchi
    • 1
  • T. Miyamoto
    • 1
  1. 1.Department of Medicine and Physical TherapyUniversity of Tokyo School of MedicineTokyoJapan

Personalised recommendations