Abstract
Lymphocytes isolated from homozygotes and heterozygotes for phenylketonuria show increased phenylalanine, tyrosine and α-aminobutyric acid contents when compared with lymphocytes from normal subjects.
Similar content being viewed by others
References
Bøyum, A. Isolation of mononuclear cells and granulocytes from human blood.Scand. J. Clin. Lab. Invest. 21 (Suppl. 97) (1968) 77
Cabalska, B., Dudzynska, N., Borzymowska, J., Zorska, K., Koslacz-Folga, A. and Bozkowa, K. Termination of dietary treatment in phenylketonuria.Eur. J. Pediatr. 126 (1977) 253–262
Ford, R. C. and Berman, J. L. Phenylalanine metabolism and intellectual function among carriers of phenylketonuria and hyperphenylalaninemia.Lancet 1 (1977) 767
Kedenburg, C.-P. A lithium buffer system for accelerated single column amino acid analysis in physiological fluids.Anal. Biochem. 40 (1971) 35
Smith, J., Lobascher, M. E., Stevenson, J. E., Wolf, O. H., Schmidt, H., Grubel-Kaiser, S. and Bickel, H. Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria.Br. Med. J. 2 (1978) 723–726
Thalhammer, O., Havelec, L., Knoll, E. and Wehle, E. Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine blood level elevation?Hum. Genet. 38 (1977) 285–288
Williamson, M., Koch, R., Bessman, S. P. and Layne, E. C. The relation between heterozygosity and IQ in phenylketonuria. Am. Pediatr. Soc. 86th Annual Meeting Abstract 432,Pediatr. Res. 10 (1976) 373
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Thalhammer, O., Pollak, A., Lubec, G. et al. Intracellular concentrations of phenylalanine, tyrosine and α-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria compared with 26 normals. J Inherit Metab Dis 4, 73–74 (1981). https://doi.org/10.1007/BF02263597
Issue Date:
DOI: https://doi.org/10.1007/BF02263597