Journal
JOURNAL OF NEUROCHEMISTRY
Volume 80, Issue 2, Pages 362-364Publisher
WILEY
DOI: 10.1046/j.0022-3042.2001.00710.x
Keywords
dihydropteridine; neurotoxicity; nitric oxide synthase; peroxynitrite; 6-pyruvoyi-tetrahydropterin; sepiapterin
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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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