Skip to main content
SpringerLink
Log in

Phenylalanine loading tests in genetic counselling: 5 Years experience with its premarital use

  • Work In Progress
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Genetic counselling has been given to 71 engaged couples at risk of producing a phenylketonuric child. Five marriages were not recommended. None of the 51 children born to the recommended marriages has phenylketonuria.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Duczynska, N., Nowaczewska, I., Borzymowska, J. and Cabalska, B. Detection of phenylketonuric heterozygotes.Magyar Pediatr. 12 (1978) 36

    Google Scholar 

  • Güttler, F. and Hansen, G. Heterozygote detection in phenylketonuria.Clin. Genet. 11 (1977) 137

    Google Scholar 

  • Hisa, D. Y. Y. The heterozygous carrier for phenylketonuria. In Anderson, J. A. and Swaiman, K. F. (eds.)Phenylketonuria and Allied Metabolic Diseases. Washington Children's Bureau, 1967, pp. 38–49

  • Perry, T. L., Tischler, B., Hansen, S. and MacDougal, L. A. Simple test for heterozygosity for phenylketonuria.Clin. Chim. Acta 15 (1967) 47

    Google Scholar 

  • Westwood, A. and Raine, D. N. Some problems of heterozygote recognition in inherited metabolic diseases with special reference to phenylketonuria. In Seakins, J. W. T.,

  • Saunders, R. A. and Toothill, C. (eds.)Treatment of Inborn Errors of Metabolism. Churchill Livingstone, Edinburgh and London, 1973, pp. 63–76

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Diagnostic Centre of Inborn Metabolic Errors, Medical Faculty, Charles University, Prague, Czechoslovakia

    J. Hyánek, H. Viletová, V. Kunová & M. Kubík

Authors
  1. J. Hyánek
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H. Viletová
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. V. Kunová
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. M. Kubík
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hyánek, J., Viletová, H., Kunová, V. et al. Phenylalanine loading tests in genetic counselling: 5 Years experience with its premarital use. J Inherit Metab Dis 4, 51–52 (1981). https://doi.org/10.1007/BF02263586

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02263586

Keywords

Search

Navigation