Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

Giovanna Zorzi, Beat Thöny, Nenad Blau

Research output: Contribution to journalArticlepeer-review


We investigated CSF concentrations of nitrite and nitrate as indicators of nitric oxide (NO) production in patients with tetrahydrobiopterin (BH4) deficiencies. Patients with 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase and dihydropteridine reductase deficiencies exhibited decreased CSF nitrite + nitrate levels compared with healthy control subjects. Reduced levels of nitrite + nitrate were not influenced by oral administration of 2.5-5.0 mg/kg tetrahydrobiopterin. Our data indicate impaired NO synthase function in patients with BH4 deficiency and suggest possible involvement in the neuronal cell dysfunction.

Original languageEnglish
Pages (from-to)362-364
Number of pages3
JournalJournal of Neurochemistry
Issue number2
Publication statusPublished - 2002


  • 6-Pyruvoyl-tetrahydropterin
  • Dihydropteridine
  • Neurotoxicity
  • Nitric oxide synthase
  • Peroxynitrite
  • Sepiapterin

ASJC Scopus subject areas

  • Biochemistry
  • Cellular and Molecular Neuroscience


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