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Pterin metabolism in normal subjects and hyperphenylalaninaemic patients


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.

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  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) 49–53

  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)

  3. Fukushima, T. and Nixon, J. C. Analysis of reduced forms of biopterin in biological tissues and fluids.Anal. Biochem. 102 (1980) 176–188

  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) 179–186

  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) 673–679

  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) 771–777

  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) 806–810

  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) 131–133

  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) 109–120

  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) 185–187

  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) 385–393

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Dhondt, J.L., Farriaux, J.P., Largilliere, C. et al. Pterin metabolism in normal subjects and hyperphenylalaninaemic patients. J Inherit Metab Dis 4, 47–48 (1981).

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