Lesch-Nyhan Syndrome: Reduced Amino Acid Concentrations in CSF and Brain

  • R. Angus Harkness
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)


The abnormal function of the central nervous system in the Lesch-Nyhan syndrome (McKusick, 30800) due to an isolated deficiency of the purine salvage enzyme hypoxanthine guanine phosphor ibosyltransf erase, HPRT (EC 2.4. 2.8) has been difficult to understand despite the postnatal development of high specific activity in the brain.


Amino Acid Concentration Postnatal Development Lesch Nyhan Syndrome HPRT Deficiency Brain Gaba Level 
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  1. Castells, S., Chakrabarti, C., Winsberg, B.G., Hurwic, M., Perel, J. M., and Nyhan, W. L., 1979, Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome, J. Autism.Dev. Disorders, 9: 95.CrossRefGoogle Scholar
  2. Harkness, R. A., McCreanor, G. M., and Watts, R. W. E., 1988a, Lesch-Nyhan syndrome and its pathogenes is: Pur ine concentrations in plasma and urine with metabolic profiles in CSF, J. Inher. Metab. Dis., 11: in pressGoogle Scholar
  3. Harkness, R. A., Purkiss, P., Duffy, S., Chalmers, R. A., and Jones, M., 1988b, The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolites, J. Inher. Metab. Dis., 11: 103.PubMedCrossRefGoogle Scholar
  4. Kelley, W. N., Greene, M. L., Rosenbloom, F.M., Henderson, J. F., and Seegmiller, J. E., 1969, Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout, Ann. Int. Med., 70: 155.PubMedGoogle Scholar
  5. Loscher, W., and Schmidl, D., 1987, Diazepam increases γ-aminobutyric acid in human cerebrospinal fluid, J. Neurochem., 49: 152.PubMedCrossRefGoogle Scholar
  6. McCreanor, G. M., and Harkness, R. A., 1987, Hypoxanthine output is increased by ATP use in man, Biochem.Soc. Trans., 15: 1060.Google Scholar
  7. McCreanor, G. M., Harkness, R. A., and Watts, R. W. E., 1987, Reduced concentrations of purine nucleotides in hypoxanthine phosphoribosyltransferase deficient human lymphoblasts, Biochem.Soc.Trans., 15: 555.Google Scholar
  8. Perry, T. L., Hansen, S., Berry, K., Mok, C., and Lesk, D., 1971, Free amino acids and related compounds in biopsies of human brain, J. Neurochem., 18: 521.PubMedCrossRefGoogle Scholar
  9. Rassin, D. K., Lloyd, K. G., Kelley, W. N., and Fox, I. H., 1982, Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome, Neuropediatrics, 13: 130.PubMedCrossRefGoogle Scholar
  10. Siesjo, B. K., 1978, Brain Energy Metabolism, Wiley, London.Google Scholar
  11. Stone, T. W., 1981, Physiological roles of adenosine and adenosine 5′-triphosphate in the nervous system. Neuroscience, 6: 523.PubMedCrossRefGoogle Scholar
  12. Wurtman, R. J., and Fernstrom, J. D., 1976, Control of brain neurotransmitter synthesis by precursor availability and nutritional state, Biochem.Pharmacol., 25: 1691.PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • R. Angus Harkness
    • 1
  1. 1.Division of Inherited Metabolic DiseasesMRC Clinical Research CentreHarrowUK

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