Summary
Biopterin concentrations in red blood cells were higher in patients with chronic hyperphenylalaninaemia than following a single oral dose of phenylalanine, although the plasma concentrations were similar. These findings suggest that tetrahydrobiopterin is synthesized in immature red blood cells in response to hyperphenylalaninaemia. The less marked increase in plasma biopterin suggests slow release from a tissue reservoir. The maintenance of a differential between erythrocyte and plasma biopterin concentrations suggests that some mechanism retains biopterin intracellularly.
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Albrecht, A. M., Biedler, J. L., Baker, H., Frank, O. and Hutner, S. H. Biopterin content of human neuroblastoma cells in culture.Res. Commun. Chem. Pathol. Pharmacol. 19 (1978) 377–380
Atherton, N. D. and Green, A. HPLC measurement of phenylalanine in plasma.Clin. Chem. 34 (1988) 2241–2244
Blair, J. A., Ratanasthien, K. and Leeming, R. J. Intestinal absorption of tetrahydrobiopterin and pteroic acid in man: A comparison of models for the transport of folates across the small intestine.Gut 15 (1974) 832
Danks, D. M., Bartholome, K., Clayton, B. E., Curtius, H-Ch., Grobe, H., Kaufman, S., Leeming, R. J., Pfleiderer, W., Rembold, H. and Rey, F. Malignant hyperphenylalaninaemia — Current status (June 1977).J. Inher. Metab. Dis. 1 (1978) 49–53
Dhondt, J-L., Ardouin, P., Hayte, J. M. and Farriaux, J-P. Developmental aspects of pteridine metabolism and relationship with phenylalanine metabolism.Arch. Dis. Child. 116 (1981) 143–152
Edwards, P.The effects of some neurotoxins on tetrahydrobiopterin metabolism, PhD Thesis, Aston University, Birmingham, UK, 1988
Hasler, T. and Niederwieser, A. Tetrahydrobiopterin-producing enzyme activities in livers of animals and man. In Cooper, B. A. and Whitehead, V. M. (eds.),Chemistry and Biology of Pteridines, Walter de Gruyter, Berlin and New York, 1986
Kaufman, S. Regulatory properties of pterin dependent hydroxylases. Variations on a theme. In Usdin, E., Weiner, N. Y. and Youdim, M. B. H. (eds.),Functions and Regulations of Monoamine Enzymes, MacMillan, London, 1981, pp. 165–173
Kaufman, S., Berlow, S., Summer, G. K., Milstien, S., Schulman, J. D., Orloff, S., Spielberg, S. and Pueschel, S. Hyperphenylalaninaemia due to a deficiency of biopterin.N. Engl. J. Med. 299 (1978) 673–679
Leeming, R. J.Metabolism of biopterin and its derivatives in man and the rat, PhD Thesis. Aston University, Birmingham, UK, 1979
Leeming, R. J. and Blair, J. A. The effects of pathological and normal physiological processes on biopterin derivative levels in man.Clin. Chim. Acta. 108 (1980) 103–111
Leeming, R. J., Blair, J. A., Green, A. and Raine, D. N. Biopterin derivatives in normal and phenylketonuric patients after oral loads ofL-phenylalanine,L-tyrosine andL-tryptophan.Arch. Dis. Child. 51 (1976a) 771–777
Leeming, R. J., Blair, J. A., Melikian, V. and O'Gorman, D. Biopterin derivatives in human body fluids and tissues.J. Clin. Pathol. 29 (1976b) 444–451
Leeming, R. J., Barford, P. A., Blair, J. A. and Smith, I. Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.Arch. Dis. Child. 59 (1984) 58–61
Milstien, S. and Kaufman, S. The regulation of biopterin biosynthesis in the rat. In Blair, J. A. (ed.),Chemistry and Biology of Pteridines, Walter de Gruyter, Berlin and New York, 1983, pp. 753–757
Milstien, S., Kaufman, S. and Tanaka, K. Regulation of cellular proliferation by tetrahydrobiopterin. In Curtius, H-Ch. (ed.),Chemistry and Biology of Pteridines, Walter de Gruyter, Berlin and New York, 1989 (In press).
Rey, F., Harpey, J-P., Leeming, R. J., Blair, J. A., Aicardi, J. and Rey, J. Les hyperphenylalaninemies avec activitie normale de la phenylalanine-hydroxylase: le defecit en tetrahydrobiopterin et le defecit en dihydropteridine reductase.Arch. Fr. Pediatr. 34 (1977) 109–120
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Leeming, R.J., Hall, S.K., Surplice, I.M. et al. Relationship between plasma and red cell biopterins in acute and chronic hyperphenylalaninaemia. J Inherit Metab Dis 13, 883–887 (1990). https://doi.org/10.1007/BF01800214
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DOI: https://doi.org/10.1007/BF01800214