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Journal of Inherited Metabolic Disease

, Volume 4, Issue 1, pp 47–48 | Cite as

Pterin metabolism in normal subjects and hyperphenylalaninaemic patients

  • J. L. Dhondt
  • J. P. Farriaux
  • C. Largilliere
  • M. Dautrevaux
  • P. Ardouin
Work In Progress

Abstract

The application of high performance liquid chromatography to the estimation of urinary pterins is illustrated by results from normal subjects and from patients with phenylketonuria, dihydropteridine reductase deficiency and biopterin synthetase deficiency. In normal subjects following a phenylalanine load there is a temporary increase in pterin elimination, the pattern being different to that seen in chronic hyperphenylalaninaemia.

Keywords

Public Health Internal Medicine Liquid Chromatography High Performance Liquid Chromatography Temporary Increase 
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.

References

  1. Danks, D. M., Bartholome, K., Clayton, B. E., Curtius, H., Grobe, H., Kaufman, S., Leeming, R., Pfleiderer, W., Rembold, H. and Rey, F. Malignant hyperphenylalaninaemia—current status (June 1977).J. Inher. Metab. Dis. 1 (1978) 49–53Google Scholar
  2. Dhondt, J. L., Largilliere, C., Ardouin, P., Farriaux, J. P. and Dautrevaux, M. Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine.Clin. Chim. Acta (in press)Google Scholar
  3. Fukushima, T. and Nixon, J. C. Analysis of reduced forms of biopterin in biological tissues and fluids.Anal. Biochem. 102 (1980) 176–188Google Scholar
  4. Gal, E. M., Bybee, J. A. and Sherman, A. D. Biopterin. V.De novo synthesis of dihydrobiopterin: evidence for its quinonoid structure and lack of dependence of its reduction to tetrahydrobiopterin on dihydrofolate reductase.J. Neurochem. 32 (1979) 179–186Google Scholar
  5. Kaufman, S., Berlow, S., Summer, G. K., Milstien, S., Schulman, J. D., Orloff, S., Spielberg, S. and Pueshel, S. Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.N. Engl. J. Med. 299 (1978) 673–679Google Scholar
  6. Leeming, R. J., Blair, J. A., Green, A. and Raine, D. N. Biopterin derivatives in normal and phenylketonuria patients after oral doses ofl-phenylalanine,l-tyrosine andl-tryptophan.Arch. Dis. Child. 51 (1976) 771–777Google Scholar
  7. Milstien, S., Kaufman, S. and Summer, G. K. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.Pediatrics 65 (1980) 806–810Google Scholar
  8. Niederwieser, A., Curtius, H.-Ch., Bettoni, O., Bieri, J., Schircks, B., Viscontini, M. and Schaub, J. Atypical phenylketonuria caused by 7,8-dihydrobiopterin synthetase deficiency.Lancet 1 (1979) 131–133Google Scholar
  9. Rey, F., Harpey, J. P., Leeming, R. J., Blair, J. A., Aicardi, J. and Rey, J. Les hyperphenylalaninemies avec activité normale de la phenylalanine-hydroxylase. Le déficit en tétrahydrobioptérine et le déficit en dihydroptéridine-réductase.Arch. Franç. Pédiatr. 34 (1977) 109–120Google Scholar
  10. Schlesinger, P., Watson, B. M., Cotton, R. G. H. and Danks, D. M. Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria.Clin. Chim. Acta 92 (1979) 185–187Google Scholar
  11. Stea, B., Halpern, R. M. and Smith, R. A. Separation of unconjugated pteridines by high-pressure cation-exchange liquid chromatography.J. Chromatogr. 168 (1979) 385–393Google Scholar

Copyright information

© MTP Press Limited 1981

Authors and Affiliations

  • J. L. Dhondt
    • 1
  • J. P. Farriaux
    • 1
  • C. Largilliere
    • 1
  • M. Dautrevaux
    • 2
  • P. Ardouin
    • 2
  1. 1.Service de Génétique et Maladies Héréditaires du Métabolisme, CHULilleFrance
  2. 2.Laboratoire de BiochimieFaculté de MédecineLilleFrance

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