Related Experiment Video
Updated: Oct 2, 2026

En Face Detection of Nitric Oxide and Superoxide in Endothelial Layer of Intact Arteries
Published on: February 25, 2016
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency
Giovanna Zorzi1, Beat Thöny, Nenad Blau
1Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.
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.
Related Concept Videos
Nitric Oxide Signaling Pathway
Drugs Affecting Neurotransmitter Synthesis

