European Journal of Pediatrics

, Volume 164, Issue 6, pp 395–396 | Cite as

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria

  • Thomas Opladen
  • Marcel Zurflüh
  • Ilse Kern
  • Lucja Kierat
  • Beat Thöny
  • Nenad Blau
Short Report

Notes

Acknowledgements

The authors thank the patient and his family for their exemplary participation. This work was supported by the Swiss National Science Foundation grant no. 3100-066953.01. Thomas Opladen received a research grant from the Aachen Medical Faculty and support from the “Sanitätsrat-Dr.-Emil-Alexander-Huebner-und Gemahlin-Stiftung”.

References

  1. 1.
    Bernegger C, Blau N (2002) High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002. Mol Genet Metab 77: 304–313Google Scholar
  2. 2.
    Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82: 101–111Google Scholar
  3. 3.
    Fiege B, Ballhausen D, Kierat L, Leimbacher W, Goriouniv D, Schircks B, Thöny B, Blau N (2004) Plasma tetrahydrobiopterin and its pharmacokinetics following oral administration. Mol Genet Metab 81: 45–51Google Scholar
  4. 4.
    Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135: 375–378Google Scholar
  5. 5.
    Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347: 2122–2132Google Scholar
  6. 6.
    Thöny B, Ding Z, Martinez A (2004) Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. FEBS Lett 577: 507–511Google Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Thomas Opladen
    • 1
    • 2
  • Marcel Zurflüh
    • 1
  • Ilse Kern
    • 3
  • Lucja Kierat
    • 1
  • Beat Thöny
    • 1
  • Nenad Blau
    • 1
  1. 1.Division of Clinical Chemistry and BiochemistryUniversity Children’s HospitalZurich Switzerland
  2. 2.Division of Paediatric Neurology, Department of PaediatricsUniversity HospitalAachen Germany
  3. 3.Division of Metabolism, Department of PaediatricsUniversity HospitalGeneva Switzerland

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