Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency |
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Authors: | Zorzi Giovanna Thöny Beat Blau Nenad |
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Affiliation: | Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland. |
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Abstract: | 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. |
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Keywords: | dihydropteridine neurotoxicity nitric oxide synthase peroxynitrite 6‐pyruvoyl‐tetrahydropterin sepiapterin. |
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