Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency
Open Access
- 1 January 2002
- journal article
- research article
- Published by Wiley in Journal of Neurochemistry
- Vol. 80 (2) , 362-364
- https://doi.org/10.1046/j.0022-3042.2001.00710.x
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‐tetra‐hydropterin 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.Keywords
This publication has 9 references indexed in Scilit:
- Tetrahydrobiopterin Deficiencies without Hyperphenylalaninemia: Diagnosis and Genetics of DOPA-Responsive Dystonia and Sepiapterin Reductase DeficiencyMolecular Genetics and Metabolism, 2001
- Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without HyperphenylalaninemiaAmerican Journal of Human Genetics, 2001
- Tetrahydrobiopterin: a critical cofactor for eNOS and a strategy in the treatment of endothelial dysfunction?American Journal of Physiology-Heart and Circulatory Physiology, 2001
- Tetrahydrobiopterin biosynthesis, regeneration and functionsBiochemical Journal, 2000
- Stimulation of the Brain NO/Cyclic GMP Pathway by Peripheral Administration of Tetrahydrobiopterin in the hph‐1 MouseJournal of Neurochemistry, 1999
- Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentrationJournal of Inherited Metabolic Disease, 1999
- Tetrahydrobiopterin alters superoxide and nitric oxide release in prehypertensive rats.Journal of Clinical Investigation, 1998
- Impairment of the nitric oxide/cyclic GMP pathway in cerebellar slices prepared from thehph-1 mouseBrain Research, 1996
- Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiencyJournal of Inherited Metabolic Disease, 1993