Literature DB >> 10894227

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.

B Plecko1, S Stöckler-Ipsiroglu, E Paschke, W Erwa, E A Struys, C Jakobs.   

Abstract

Diagnosis of pyridoxine-dependent epilepsy is based on the clinical response to high-dosage application of pyridoxine. Here, we report on 2 patients with pyridoxine-dependent epilepsy with significant elevation of pipecolic acid concentrations in plasma and cerebrospinal fluid (CSF) and further increase of pipecolic acid in CSF during a 72-hour pyridoxine withdrawal in 1 of them. Patients with non-pyridoxine-dependent epilepsy had normal pipecolic acid concentrations in plasma and significantly lower concentrations in CSF. High plasma and CSF pipecolic acid concentrations might provide a diagnostic marker in pyridoxine-dependent epilepsy.

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Year:  2000        PMID： 10894227

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  22 in total

1.  Plasma pipecolic acid is frequently elevated in non-peroxisomal disease.

Authors:  J C M Baas; R van de Laar; L Dorland; M Duran; R Berger; B T Poll-The; T J de Koning
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

2.  Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.

Authors:  B Plecko; H Hoeger; C Jakobs; E Struys; C Stromberger; M Leschnik; A Muehl; S Stoeckler-Ipsiroglu
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  Epidemiology of pyridoxine dependent seizures in the Netherlands.

Authors:  J V Been; L A Bok; P Andriessen; W O Renier
Journal:  Arch Dis Child       Date:  2005-09-13       Impact factor: 3.791

4.  Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy.

Authors:  P L Pearl; S M Gospe
Journal:  J Inherit Metab Dis       Date:  2007-02       Impact factor: 4.982

5.  Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.

Authors:  Malcolm Proudfoot; Philip Jardine; Agne Straukiene; Rupert Noad; Andrew Parrish; Sian Ellard; Stuart Weatherby
Journal:  JIMD Rep       Date:  2013-02-12

6.  Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

Authors:  G F Hoffmann; B Schmitt; M Windfuhr; N Wagner; H Strehl; S Bagci; A R Franz; P B Mills; P T Clayton; M R Baumgartner; B Steinmann; T Bast; N I Wolf; J Zschocke
Journal:  J Inherit Metab Dis       Date:  2006-12-23       Impact factor: 4.982

7.  Diagnosis and treatment of neurotransmitter disorders.

Authors:  Phillip L Pearl; Thomas R Hartka; Jacob Taylor
Journal:  Curr Treat Options Neurol       Date:  2006-11       Impact factor: 3.598

Review 8.  New treatment paradigms in neonatal metabolic epilepsies.

Authors:  P L Pearl
Journal:  J Inherit Metab Dis       Date:  2009-02-24       Impact factor: 4.982

9.  Pyridoxine responsiveness in novel mutations of the PNPO gene.

Authors:  Barbara Plecko; Karl Paul; Philippa Mills; Peter Clayton; Eduard Paschke; Oliver Maier; Oswald Hasselmann; Gudrun Schmiedel; Simone Kanz; Mary Connolly; Nicole Wolf; Eduard Struys; Sylvia Stockler; Lucia Abela; Doris Hofer
Journal:  Neurology       Date:  2014-03-21       Impact factor: 9.910

10.  Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.

Authors:  Gregory J Basura; Shawn P Hagland; Anna M Wiltse; Sidney M Gospe
Journal:  Eur J Pediatr       Date:  2008-09-02       Impact factor: 3.183
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