Skip to main content
SpringerLink
Log in

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading

  • Published:
Journal of Inherited Metabolic Disease

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

REFERENCES

  • Blau N, Thöny B, Renneberg A, Arnold LA, Hyland K (1998) Dihydropteridine reductase deficiency localized to the central nervous system. J Inher Metab Dis 21: 433–434.

    Google Scholar 

  • Blau N, Thöny B, Cotton RGH, Hyland K (2000) Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, in press.

    Google Scholar 

  • Curtius HC, Blau N, Kuster T (1991) Pterins. In: Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 377–396.

    Google Scholar 

  • Hyland K, Biaggioni I, Elpeleg ON, Nyggard TG, Gibson KM (1996) Disorders of neurotransmitter metabolism. In: Blau N, Duran M, Blaskovics M, eds. PhysicianÏs Guide to the Laboratory Diagnosis of Metabolic Diseases. London: Chapman & Hall, 79–98.

    Google Scholar 

  • Hyland K, Fryburg JS, Wilson WG, et al (1997) Oral phenylalanine loading in doparesponsive dystonia-a possible diagnostic test. Neurology 48: 1290–1297.

    Google Scholar 

  • Ponzone A, Guardamagna O, Dianzani I, et al (1993a) Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. Pediatr Res 33: 125–128.

    Google Scholar 

  • Ponzone A, Guardamagna O, Spada M, et al (1993b) Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 152: 655–661

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zu¨rich, Switzerland

    N. Blau & B. Thöny

  2. Children's Hospital Königsborn, Unna, Germany

    A. Renneberg

  3. Children's Hospital Augsburg, Germany

    J. M. Penzien

  4. Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA

    K. Hyland

  5. Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA

    K. Hyland

  6. University Children's Hospital, Marburg, Germany

    G. F. Hoffmann

Authors
  1. N. Blau
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. B. Thöny
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Renneberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. M. Penzien
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. K. Hyland
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. G. F. Hoffmann
    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

Blau, N., Thöny, B., Renneberg, A. et al. Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading. J Inherit Metab Dis 22, 216–220 (1999). https://doi.org/10.1023/A:1005584627797

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1005584627797

Keywords

Search

Navigation