Skip to main content
SpringerLink
Log in

Tetrahydrobiopterin Deficiency in Portugal: Results of the Screening for Hyperphenylalaninemia

  • Chapter
Chemistry and Biology of Pteridines and Folates

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 338))

  • 21 Accesses

Abstract

Since 1974 variants of phenylketonuria (PKU) have been described in which neurological deterioration occurred despite a low phenylalanine (Phe) diet. Subsequendy the lack of the cofactor, tetrahydrobiopterin (BH4), has been demonstrated to be the cause of this deterioration.

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

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Similar content being viewed by others

References

  1. N. Blau, Cro Med J. 33:17 (1992)

    Google Scholar 

  2. J. L. Dhondt, J Pediatr. 104:501 (1987)

    Google Scholar 

  3. A. Niederwieser, W. Staudenmann and E. Wetzel, J Chromtogr. 290:237 (1984)

    Article  CAS  Google Scholar 

  4. I. T. de Almeida, P. P. Peralta and C. Silveira, in “Progress in Tryptophan and Serotonin Research”, J. Bender and Kochen, eds., Walter de Gruyter, Berlin, New York, pp.365 (1987)

    Google Scholar 

  5. I. T. de Almeida, Doctoral Thesis, University of Lisbon (1988)

    Google Scholar 

  6. N. Arai, K. Narisawa, H. Hayakawa and K. Tada, Pediatr. 70:426 (1982)

    CAS  Google Scholar 

  7. J. L. Dhondt, J. P. Farriaux and J. B. Hayte, Arch Fr Pediatr. 43:785 (1986)

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Faculdade de Farmácia, Centro de Metabolismos e Genética (INIC), 1600, Lisboa, Portugal

    I. T. de Almeida & P. P. Leandro

  2. Unid. D. Met, Serv. Ped., H. Sta. Maria, Lisboa, Portugal

    R. Portela, A. Cabral, F. Eusébio & T. Tasso

  3. Division of Clinical Chemistry, University Children’s Hospital, Steinwiesstrasse 75, CH-8032, Zurich, Switzerland

    A. Matasovic & N. Blau

Authors
  1. I. T. de Almeida
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. P. P. Leandro
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. Portela
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. Cabral
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. F. Eusébio
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. T. Tasso
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. A. Matasovic
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. N. Blau
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Dept of Pharmacology College of Medicine, Universily of South Alabama, Mobile, AL, 36688, USA

    June E. Ayling

  2. Dept. of Biochemistry College of Medicine, University of South Alabama, Mobile, AL, 36688, USA

    M. Gopal Nair

  3. College of Medicine, Universily of South Alabama, Mobile, AL, 36688, USA

    Charles M. Baugh

Rights and permissions

Reprints and permissions

Copyright information

© 1993 Springer Science+Business Media New York

About this chapter

Cite this chapter

de Almeida, I.T. et al. (1993). Tetrahydrobiopterin Deficiency in Portugal: Results of the Screening for Hyperphenylalaninemia. In: Ayling, J.E., Nair, M.G., Baugh, C.M. (eds) Chemistry and Biology of Pteridines and Folates. Advances in Experimental Medicine and Biology, vol 338. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2960-6_53

Download citation

  • DOI: https://doi.org/10.1007/978-1-4615-2960-6_53

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-6287-6

  • Online ISBN: 978-1-4615-2960-6

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation