title: Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.
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.
authors.affiliation: Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zorzi
authors.forename: Beat
authors.initials: B
authors.lastname: Thöny
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
mesh_terms: D000293:Adolescent; D000328:Adult; D000429:Alcohol Oxidoreductases / Q000172:deficiency; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D009566:Nitrates / Q000134:cerebrospinal fluid; D009569:Nitric Oxide / Q000134:cerebrospinal fluid*; D019001:Nitric Oxide Synthase / Q000378:metabolism; D009573:Nitrites / Q000134:cerebrospinal fluid; D010661:Phenylketonurias / Q000134:cerebrospinal fluid*; D019761:Phosphorus-Oxygen Lyases / Q000172:deficiency
chemical_list: D009566:Nitrates; D009573:Nitrites; D001708:Biopterins; D009569:Nitric Oxide; D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase; D019001:Nitric Oxide Synthase; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase; C003402:sapropterin