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Ausscheidung von Transaminierungsprodukten bei Hyperphenylalaninämien

Excretion of transamination products in hyperphenylalaninemia

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Summary

A low-phenylalanine diet was given for a period of three weeks to four untreated adult phenylketonurics with mental deficiency. One week before the diet was started, in the course of the diet and one week after its termination, some transamination products of phenylalanine, tryptophan and histidine were determined quantitatively. Each of the transamination products showed a positive correlation to the serum phenylalanine levels of the patients, probably due to the large affinity of 4-hydroxyphenylpyruvic acid and phenylpyruvic acid for the amino groups of the aromatic amino acids. This may also explain the low levels of epinephrine, norepinephrine and serotonine which has been observed by other authors in untreated phenylketonurics. Accordingly, treated phenylketonurics should suffer from a chronic deficiency of biogenic amines after termination of the low-phenylalanine diet.

Zusammenfassung

Vier unbehandelte, erwachsene und debile Phenylketonuriker werden ca. 3 Wochen mit einer phenylalaninarmen Diät ernährt. Eine Woche vor, während und eine Woche nach der Diät werden einige Transaminierungsprodukte von Phenylalanin, Tryptophan und Histidin quantitativ bestimmt. Alle zeigen eine positive Korrelation zum Serumphenylalaninspiegel der Probanden. Vermutlich ist hierfür die große Affinität der 4-Hydroxyphenylbrenztraubensäure und der Phenylbrenztraubensäure zur Aromatischen-Aminosäure-Transferase verantwortlich. Diese Zusammenhäge könnten auch das gelegentlich beschriebene Defizit an Adrenalin, Noradrenalin und Serotonin bei unbehandelten Phenylketonurikern erklären. Es wird darauf hingewiesen, daß auch behandelte Phenylketonuriker nach dem Absetzen der Diät einem chronischen Defizit an biogenen Aminen ausgesetzt wären.

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Abbreviations

SPA:

Serum-Phenylalanin-Spiegel

PPA:

Phenylbrenztraubensäure

oHOPAA:

ortho-Hydroxyphenylessigsäure

PLA:

Phenylmilchsäure

ILA:

Indolmilchsäure

ImLA:

Imidazolmilchsäure

ImAA:

Imidazolessigsäure

PPA:

Phenylessigsäure

4HOPPA:

4-Hydroxyphenylbrenztraubensäure

Kre:

Kreatinin

Enzyme:

4-Hydroxyphenylbrenztraubensäure-Oxidase: Phenylpyruvat-Oxido-Reduktase (E.C.1.13.11.27)

Try-Aminotransferase:

L-Try-2-Oxoglutamat-Aminotransferase (E.C.2.6.1.27)

Try-Hydroxylase:

L-Try-Tetrahydropteridin-Oxigen-Oxido-Reduktase (E.C.1.14.16.4)

Literatur

  1. Cabalska, B., Duczynska, N., Borzymowska, J., Zorska, K., Koslarcz-Folga, A., Kozkowa, K.: Termination of Dietary Treatment in Phenylketonuria. Eur. J. Paediat.126, 253–262 (1977)

    Google Scholar 

  2. Brown, E.S., Warner, R.: Mental development of phenylketonuric children on or off diet after the age of six. Psychol. Med.6, 287–296 (1976)

    Google Scholar 

  3. Smith, J., Lobascher, M.E., Stevenson, J.E., Wolff, O.H., Schmidt, H., Grubel-Kaiser, S., Bickel, H.: Effect of stopping low-phenylalanine diet on intellectual progress with phenylketonuria. Brit. Med. J.6139, 723–726 (1978)

    Google Scholar 

  4. Olek, K., Uhlhaas, S., Wardenbach, P., Yamaguchi, M.: Zuverlässigkeit von Aminosäure-Bestimmungen aus menschlichem Serum bei unterschiedlichen Lagerungsbedingungen. J. Clin. Chem. Clin. Biochem. (in Druck)

  5. Byrd, D.J., Kochen, W., Idzko, D., Knorr, E.: The analysis of indolic tryptophan metabolites in human urine. J. Chromatog.94, 85–106 (1974)

    Google Scholar 

  6. Olek, K., Wardenbach, P.: Quantitative gaschromatische Bestimmung von aromatischen Carbonsäuren mit Hilfe von Glas-Kapillarsäulen. J. Clin. Chem. Clin. Biochem.15, 657–662 (1978)

    Google Scholar 

  7. Wadman, S.K., von Sprang, F.J., van der Heiden, C., Ketting, D.: Quantitation of Urinary Phenylalanine Metabolites in Phenylketonuria. In: Phenylketonuria. Bickel, H., Hudson, F.P., Woolf, L.I. (eds.), pp. 65–72. Stuttgart: Thieme 1971

    Google Scholar 

  8. Chalmers, R.A., Watts, R.W.E.: Quantitative Studies on the Urinary Excretion of Unconjugated Aromatic Acids in Phenylketonuria. Clin. Chim. Acta55, 281–294 (1974)

    Google Scholar 

  9. Armstrong, M.D., Robinson, M.D.: On the excretion of indole dervatives in phenylketonuria. Arch. Biochem.52, 287–288 (1954)

    Google Scholar 

  10. Boscott, R.J., Bickel, H.: Detection of some new abnormal metabolites in the urine of phenylketonuria. Scand. J. Clin. Lab. Invest.5, 380–382 (1953)

    Google Scholar 

  11. Fellman, J.H., Fujita, T.S., Roth, E.S.: Substrate specifity of p-hydroxyphenylpyruvate hydroxylase. Biochem. Biophys. Acta268, 601–604 (1972)

    Google Scholar 

  12. Shaw, K.N.F., Gutenstein, M., Jacobs, E.E., Blaskovics, J.C.: Biochemical Screening and Monitoring of Patients with Phenylketonuria and Variant Forms of Hyperphenylalaninemia. In: Phenylketonuria. Bickel, H., Hudson, F.P., Woolf, L.J. (eds.), pp. 163–179. Stuttgart: Thieme 1977

    Google Scholar 

  13. Wadman, S.K., De Bree, P.K., van der Heiden, C., von Sprang, F.J.: Automatik column chromatographic analysis of urinary and serum imidazoles in patients with histidinemia and normals. Clin. Chim. Acta,31, 215–224 (1971)

    Google Scholar 

  14. Shaw, K.N.F., Redlich, D., Wright, S.W., Jepson, J.B.: Dependence of urinary indole excretion in Hartnup disease upon gut flora. Fed. Proc.19, 194 (1960)

    Google Scholar 

  15. Armstrong, M.D.: Biochemistry in Phenylketonuria. Lyman, F.L. (ed.), pp. 93. Springfield: Thomas 1963

    Google Scholar 

  16. Auerbach, V.H., George, A.M.D., Carpenter, G.G.: Phenylalaninemia, a study of diversity of disorders which produce elevation of blood levels of phenylalanine. In: Amino acid metabolism and genetic variation. Nyhan, W.L. (ed)., pp. 11–68. New York: Mc Graw-Hill 1967

    Google Scholar 

  17. Yuwiler, A., Geller, E.: On the mechanism of the brain serotonin depletion in experimental phenylketonuria. Nature (Lond.)208, 83 (1965)

    Google Scholar 

  18. Lees, G.J., Weiner, N.: Transaminations between amino acids and keto acids elevated in phenylketonuria and maple syrup urine disease. J. Neurochem.20, 389–403 (1973)

    Google Scholar 

  19. Ichiyama, A., Nakamura, S., Nishuzuka, Y., Hayaishi, O.: Tryptophan 5-Hydroxylase in mammalian brain. Arch. Pharmac.6A, 5 (1968)

    Google Scholar 

  20. Ichiyama, A., Nakamura, S., Nishizuka, Y., Hayaishi, O.: Enzymic studies on the biosynthesis of serotonin in mammalian brain. J. Biol. Chem.245, 1699 (1970)

    Google Scholar 

  21. Weil-Malherbe, H.: Blood adrenaline and intelligence. In Biochemistry of the developing nervous system. H. Waelsch (ed). New York: Academic Press 1955

    Google Scholar 

  22. Nadler, H.L., Hsia, D.Y.Y.: Epinephrine metabolism in phenylketonuria. Proc. Soc. Exp. Biol. Med.107, 721–722 (1969)

    Google Scholar 

  23. Mc Kean, C.: The Effects of hig Phenylalanine Concentrations on Serotonine and Catecholamine Metabolism in the Human Brain. Brain Res.47, 469–476 (1972)

    Google Scholar 

  24. Curtius, H., Baerlocher, K., Völlmin, J.A.: Pathogenesis of phenylketonuria: inhibition of dopa and catecholamine synthesis in patients with phenylketonuria. Clin. Chim. Acta42, 235 (1972)

    Google Scholar 

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Authors and Affiliations

  1. Institut für Humangenetik der Universität Bonn, Germany

    K. Olek & P. Wardenbach

  2. Kinderklinik der Medizinischen Hochschule Hannover, Germany

    D. Byrd

Authors
  1. K. Olek
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  2. P. Wardenbach
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  3. D. Byrd
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Olek, K., Wardenbach, P. & Byrd, D. Ausscheidung von Transaminierungsprodukten bei Hyperphenylalaninämien. Klin Wochenschr 58, 135–140 (1980). https://doi.org/10.1007/BF01477270

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  • DOI: https://doi.org/10.1007/BF01477270

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