Springer Nature is making Coronavirus research free. View research | View latest news | Sign up for updates

In Vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

  • 32 Accesses

  • 27 Citations


The results ofin vivo determinations of phenylalanine-hydroxylating capacity using deuterated phenylalanine loads are compared with phenylalanine hydroxylase activity in liver biopsy samples and the results of oral protein challenge.

This is a preview of subscription content, log in to check access.


  1. Bartholome, K., Lutz, P. and Bickle, H. Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.Pediatr. Res. 9 (1975) 899

  2. Blaskovics, M. E., Schaeffler, G. E. and Hack, S. Phenylalaninemia, differential diagnosis.Arch. Dis. Child. 49 (1974) 835

  3. Curtius, H.-Ch., Niederwieser, A., Viscontini, M., Schircks, B., Otten, A., Schaub, J., Scheibenreiter, S. and Schmidt, H. Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.Clin. Chim. Acta 93 (1979) 251

  4. Trefz, F. K., Byrd, D. J., Blaskovics, M. E., Kochen, W. and Lutz, P. Determination of deuterium-labelled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry.Clin. Chim. Acta 73 (1976) 431

  5. Trefz, F. K., Erlenmaier, T., Hunneman, D. H., Bartholomé, K. and Lutz, P. Sensitivein vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero-l-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography.Clin. Chim. Acta 99 (1979) 211

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Trefz, F.K., Bartholomé, K., Bickel, H. et al. In Vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants. J Inherit Metab Dis 4, 101–102 (1981). https://doi.org/10.1007/BF02263611

Download citation


  • Public Health
  • Internal Medicine
  • Metabolic Disease
  • Phenylalanine
  • Liver Biopsy