Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.
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.
Zorzi
Giovanna
G
Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.
Thöny
Beat
B
Blau
Nenad
N
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
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