Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

The Lesch-Nyhan syndrome

Metabolic studies during administration of adenine

  • 35 Accesses

  • 7 Citations


Metabolic studies in a case of Lesch-Nyhan syndrome are presented. De novo synthesis of purine was shown to be inhibited upon adenine administration. The excretion of oxypurines is elevated, however, by an increased incorporation of the administered adenine into purine bases. A side effect of adenine administration is the production of the slightly soluble and highly nephrotoxic 2,8-dioxyadenine, which can cause renal damage.

This is a preview of subscription content, log in to check access.


  1. 1.

    Berman, P. H., Balis, M. E., Dancis, J.: Diagnostic test for congenital hyperuricemia with central nervous system dysfunction. J. Lab. clin. Med. 71, 247 (1968).

  2. 2.

    Ford, D. H., Rhines, R.: H3 accumulation in spinal cord neurons following intravenous injection of adenine-H3 as determined by liquid scintilation counting procedures. Acta neurol. scand. 43, 427 (1967).

  3. 3.

    Ghadimi, H., Bhalla, C. K., Kirchenbaum, D. M.: The significance of the deficiency state in Lesch-Nyhan disease. Acta paediat. scand. 59, 233 (1970).

  4. 4.

    Greene, M. L., Seegmiller, J. E.: Elevated erythrocyte phosphoribosylpyrophosphate in X-linked uric aciduria. J. clin. Invest. 48, 32a (1969).

  5. 5.

    Haury, H., Müller, R., Neumann, E.: Bestimmung von Harnsäure im Serum. Med. Klin. 61, 670 (1966).

  6. 6.

    Henderson, J. F.: Kinetic properties of hypoxanthine and adenine phosphoribosyltransferase. Fed. Proc. 27, 1053 (1968).

  7. 7.

    Howard, W. J., Kerson, L. A., Appel, S. H.: Synthesis de novo of purines in slices of rat brain and liver. J. Neurochem. 17, 121 (1970).

  8. 8.

    Kelley, W. N.: Hypoxanthine-guanine-phosphoribosyltransferase deficiency in the Lesch-Nyhan-syndrome and gout. Fed. Proc. 27, 1047 (1968).

  9. 9.

    Kelley, W. N., Wyngaarden, J. B.: Effects of allopurinol and oxypurinol on purine synthesis in cultured human cells. J. clin. Invest. 49, 602 (1970).

  10. 10.

    Lesch, M., Nyhan, W. L.: A familial disorder of uric acid metabolism and central nervous system function. Amer. J. Med. 36, 561 (1964).

  11. 11.

    Müller, M. M.: Allopurinolmedikation und der Enzymdefekt der Hypoxanthin-Guanin-Phosphoribosyltransferase bei primärer Gicht. In: Fortschritte der Clin. Chem., Enzyme und Hormone, S. 233, Ed. E. Kaiser. Wien: Verlag Wien. Med. Akademie 1972.

  12. 12.

    Nyhan, W. L.: Symposium: Introduction. Clinical and genetic features. Fed. Proc. 27, 1027 (1968).

  13. 13.

    Philips, F. S., Thiersch, J. B., Bendrich, A.: Adenine intoxication to in vivo formation and deposition of 2,8, dioxyadenine in renal tubules. J. Pharmacol. 104, 20 (1952).

  14. 14.

    Rosenbloom, F. M.: Possible mechanism for increased purine biosynthesis de novo in Lesch-Nyhan syndrome. Fed. Proc. 27, 1063 (1968).

  15. 15.

    Rosenbloom, F. M., Henderson, J. F., Caldwell, I. C., Kelley W. N., Seegmiller, J. E.: Biochemical basis of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine-phosphoribosyltransferase. J. biol. Chem. 243, 1166 (1968).

  16. 16.

    Rubin, C. S., Balis, M. E., Piomelli, S., Berman, P. H., Dancis, J.: Elevated AMP-pyrophosphorylase activity in congenital IMP-pyrophosphorylase deficiency. J. Lab. clin. Med. 74, 732 (1969).

  17. 17.

    Schirmeister, J. H., Willmann, H., Kiefer, H.: Endogenes Kreatinin in Serum und Harn. Klin. Wschr. 41, 878 (1963).

  18. 18.

    Schulmann, J. I., Greene, M. L., Fujimoto, W. Y., Seegmiller, J. E.: Adenine therapy for Lesch-Nyhan syndrome. Pediat. Res. 5, 77 (1971).

  19. 19.

    Seegmiller, J. E., Rosenbloom, F. M., Kelley, W. N.: An enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155, 1682 (1967).

  20. 20.

    Seegmiller, J. E.: Session 6: Management and treatment. Proceedings of the seminars in the Lesch-Nyhan syndrome. Fed. Proc. 27, 1027 (1968).

  21. 21.

    Sweetmann, L., Nyhan, W. L.: Quantitation of oxypurines and allopurinol metabolites in biological fluids by cation exchange chromatography. Anal. Biochem. 31, 358 (1969).

  22. 22.

    Van der Zee, S. P., Lommen, E. J. P., Trijbels, J. M. F., Schretlen, E. D. A. M.: The influence of adenine on the clinical features and purine metabolism in the Lesch-Nyhan syndrome. Acta paediat. scand. 59, 259 (1970).

  23. 23.

    Zoellner, N.: Eine einfache Modifikation der enzymatischen Harnsäurebestimmung. Z. klin. Chem. 1, 178 (1963).

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Demus, A., Kaiser, W. & Schaub, J. The Lesch-Nyhan syndrome. Z. Kinder-Heilk. 114, 119–130 (1973). https://doi.org/10.1007/BF00440499

Download citation

Key words

  • Lesch-Nyhan syndrome
  • Adenine therapy
  • Glycine
  • Excretion of purine bases in urine