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Influence of the phenylalanine dose on the aromatic acid excretion in phenylketonuric heterozygotes and controls after oral loading

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Heterozygotes for phenylketonuria and controls were given oral loads of 100 mg and 200 mg L-phenylalanine per kilogram body weight. The concentrations of urinary aromatic acids were determined by gas-chromatography after isolation by ion-exchange chromatography and ethylacetate extraction. On an intake of 100 mg L-phenylalanine per kilogram, controls and carriers of classical phenylketonuria excreted nearly the same amounts of aromatic acids (P>0.05). However on an intake of 200 mg per kilogram L-phenylalanine they could be distinguished from one another (P<0.001).

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  1. 1.

    Perry, T. L., Tischler, B., Hansen, S., Mac Dougall, L.: A simple test for heterozygosity for phenylketonuria. Clin. Chim. Acta 15, 47 (1967)

  2. 2.

    Rampini, S., Anders, P. W., Curtius, H. C., Marthaler, T.: Detection of heterozygotes for phenylketonuria by cloumn chromatography and discriminatory analysis. Pediat. Res. 3, 287 (1969)

  3. 3.

    Jackson, S. H., Hanley, W. B., Gero, T., Gasse, G. D.: Detection of phenylketonuric heterozygotes. Clin. Chem. 17, 538 (1971)

  4. 4.

    Griffin, R. F., Elsas, L. J.: Classic phenylketonuria: diagnosis through heterozygote detection. J. Pediat. 86, 512 (1975)

  5. 5.

    Minami, R., Olek, K., Wardenbach, P.: Statistical evaluation of a new method to detect carriers of phenylketonuria. Humangenetik 29, 151 (1975)

  6. 6.

    Mann, H. B., Whitney, D. R.: On a test of whether one of two random variables is stochastically larger than the other. Ann. Math. Statist. 18, 50 (1947)

  7. 7.

    Koepp, P., Hoffmann, B.: Detection of heterozygotes for phenylketonuria and hyperphenylalaninemia by gas-chromatographic analysis of aromatic acid excretion in urine. Clin. Chim. Acta 58, 215 (1975)

  8. 8.

    Olek, K., Wardenbach, P.: Quantitative gaschromatographische Bestimmung von aromatischen Karbonsäuren mit Hilfe von Glaskapillaren. J. Clin. Chem. Clin. Biochem. 15, 657 (1977)

  9. 9.

    van der Heiden, C., Wadman, S. K., Ketting, D., de Bree, K.: Urinary and faecal excretion of metabolites of tyrosine and phenylalanine in a patient with cystic fibrosis and severely impaired amino acid absorption. Clin. Chim. Acta 31, 133 (1971)

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Correspondence to K. Olek.

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This work has been supported by the Deutsche Forschungsgemeinschaft

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Dahmann, G., Olek, K., Pravitz, A. et al. Influence of the phenylalanine dose on the aromatic acid excretion in phenylketonuric heterozygotes and controls after oral loading. Eur J Pediatr 129, 191–195 (1978). https://doi.org/10.1007/BF00442163

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Key words

  • Phenylalanine loading
  • Phenylketonuric heterozygotes
  • Aromatic acid excretion
  • Gas-chromatography