Literature DB >> 11902126

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.

Giovanna Zorzi1, Beat Thöny, Nenad Blau.   

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.

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Year:  2002        PMID： 11902126     DOI： 10.1046/j.0022-3042.2001.00710.x

Source DB:  PubMed          Journal:  J Neurochem        ISSN： 0022-3042            Impact factor:   5.372


  8 in total

1.  Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Authors:  J L K Van Hove; J Steyaert; G Matthijs; E Legius; P Theys; R Wevers; A Romstad; L B Møller; K Hedrich; D Goriounov; N Blau; C Klein; P Casaer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-01       Impact factor: 10.154

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Journal:  J Inherit Metab Dis       Date:  2011-03-17       Impact factor: 4.982

4.  Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase.

Authors:  Karin L Leitner; Martina Meyer; Walter Leimbacher; Anja Peterbauer; Susanne Hofer; Christine Heufler; Angelika Müller; Regine Heller; Ernst R Werner; Beat Thöny; Gabriele Werner-Felmayer
Journal:  Biochem J       Date:  2003-08-01       Impact factor: 3.857

Review 5.  Does restraining nitric oxide biosynthesis rescue from toxins-induced parkinsonism and sporadic Parkinson's disease?

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Journal:  Mol Neurobiol       Date:  2013-07-31       Impact factor: 5.590

6.  LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.

Authors:  Erland Arning; Teodoro Bottiglieri
Journal:  JIMD Rep       Date:  2014-09-12

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Authors:  A A J Lam; K Hyland; S J R Heales
Journal:  J Inherit Metab Dis       Date:  2007-01-22       Impact factor: 4.750

Review 8.  Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Authors:  Thomas Opladen; Eduardo López-Laso; Elisenda Cortès-Saladelafont; Toni S Pearson; H Serap Sivri; Yilmaz Yildiz; Birgit Assmann; Manju A Kurian; Vincenzo Leuzzi; Simon Heales; Simon Pope; Francesco Porta; Angeles García-Cazorla; Tomáš Honzík; Roser Pons; Luc Regal; Helly Goez; Rafael Artuch; Georg F Hoffmann; Gabriella Horvath; Beat Thöny; Sabine Scholl-Bürgi; Alberto Burlina; Marcel M Verbeek; Mario Mastrangelo; Jennifer Friedman; Tessa Wassenberg; Kathrin Jeltsch; Jan Kulhánek; Oya Kuseyri Hübschmann
Journal:  Orphanet J Rare Dis       Date:  2020-05-26       Impact factor: 4.123
  8 in total

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