Journal of Inherited Metabolic Disease

, Volume 22, Issue 3, pp 216–220 | Cite as

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

  • N. Blau
  • B. Thöny
  • A. Renneberg
  • J. M. Penzien
  • K. Hyland
  • G. F. Hoffmann
Article

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REFERENCES

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Ponzone A, Guardamagna O, Spada M, et al (1993b) Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 152: 655–661Google Scholar

Copyright information

© Kluwer Academic Publishers 1999

Authors and Affiliations

  • N. Blau
    • 1
  • B. Thöny
    • 1
  • A. Renneberg
    • 2
  • J. M. Penzien
    • 3
  • K. Hyland
    • 4
    • 5
  • G. F. Hoffmann
    • 6
  1. 1.Division of Clinical Chemistry and BiochemistryUniversity Children's HospitalZu¨richSwitzerland
  2. 2.Children's Hospital KönigsbornUnnaGermany
  3. 3.Children's Hospital AugsburgGermany
  4. 4.Institute of Metabolic DiseaseBaylor University Medical CenterDallasUSA
  5. 5.Department of NeurologyUniversity of Texas Southwestern Medical CenterDallasUSA
  6. 6.University Children's HospitalMarburgGermany

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