Skip to main content
SpringerLink
Log in

Die molekulare Basis der Heterogenität der Phenylketonurie

  • Published:
Naturwissenschaften Aims and scope Submit manuscript

Abstract

The heterogeneity of phenylketonuria can be explained on the molecular basis. Because the phenylalanine-hydroxylating system consists of more than one enzyme, each enzyme can be mutated. Different mutations of the phenylalanine hydroxylase molecule resulting in a lack or reduction of enzyme activity can be anticipated. Enzyme activity lower than 1 % compared to normals is correlated to the severe form; enzyme activity higher than 5% is correlated to the mild form of the disease. Phenylketonuria can also be caused by a defective synthesis or defective reduction of the cofactor. Patients suffer severe neurological symptoms, because of an impaired synthesis of dopamine and serotonin.

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

  1. Föiling, A.: Hoppe-Seylers Z. Physiol. Chem.227, 169 (1934)

    Google Scholar 

  2. Jervis, G.A.: Proc. Soc. Exp. Biol.82, 514 (1953)

    PubMed  Google Scholar 

  3. Kaufman, S.: J. Biol. Chem.226, 511 (1957)

    PubMed  Google Scholar 

  4. Kaufman, S.: ibid.242, 3934 (1967)

    PubMed  Google Scholar 

  5. Beutler, E., in: The Metabolic Basis of Inherited Diseases, p. 1364 (J.B. Stanbury, J.B. Wyngaarden, O.S. Frederickson, eds.). New York: McGraw-Hill 1972

    Google Scholar 

  6. Guthrie, R.: JAMA178, 863 (1961)

    Google Scholar 

  7. Blaskovics, M.E., Nelson, T.L.: Calif. Med.115, 42 (1971)

    Google Scholar 

  8. Friedman, P.A., et al.: Proc. Nat. Acad. Sci. USA70, 552 (1973)

    PubMed  Google Scholar 

  9. Bartholomé, K., Lutz, P., Bickel, H.: Pediat. Res.9, 899 (1975)

    PubMed  Google Scholar 

  10. Bartholomé, K.: J. Inherit. Metab. Dis. (im Druck)

  11. Grimm U., et al.: Acta Biol. Med. Germ.36, 1179 (1977)

    PubMed  Google Scholar 

  12. Kaufman, S., Max, E.E., Kang, E.S.: Pediat. Res.9, 632 (1975)

    PubMed  Google Scholar 

  13. Smith, I.: Arch. Dis. Child.49, 245 (1974)

    Google Scholar 

  14. Bartholomé, K.: Lancet1974-II, 1580

  15. Kaufman, S., et al.: N. Engl. J. Med.293, 785 (1975)

    PubMed  Google Scholar 

  16. Rey, F., Blandin-Savoja, F., Rey, J.: ibid. 295, 1138 (1976)

    PubMed  Google Scholar 

  17. Bartholomé, K., et al.: Pediatrics59, 757 (1977)

    PubMed  Google Scholar 

  18. Niederwieser, A., et al.: Lancet1979-I, 131

  19. Bartholomé, K., Byrd, D.J.: ibid.1975-II, 1042

  20. Gröbe, H., et al.: Eur. J. Pediat.129, 93 (1978)

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Universitätskinderklinik, D-6900, Heidelberg

    K. Bartholomé

Authors
  1. K. Bartholomé
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Unterstützt von der Deutschen Forschungsgemeinschaft.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bartholomé, K. Die molekulare Basis der Heterogenität der Phenylketonurie. Naturwissenschaften 67, 495–498 (1980). https://doi.org/10.1007/BF01047629

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01047629

Search

Navigation