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. 2002 Jan;80(2):362-4.
doi: 10.1046/j.0022-3042.2001.00710.x.

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

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Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

Giovanna Zorzi et al. J Neurochem. 2002 Jan.

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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