Literature DB >> 21686393

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.

S Bagci1, J Zschocke, G F Hoffmann, T Bast, J Klepper, A Müller, A Heep, P Bartmann, A R Franz.   

Abstract

Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.

Entities:  

Year:  2009        PMID： 21686393      PMCID： PMC3028287          DOI： 10.1136/bcr.11.2008.1247

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  8 in total

1.  Neonatal epileptic encephalopathy.

Authors:  P T Clayton; R A H Surtees; C DeVile; K Hyland; S J R Heales
Journal:  Lancet       Date:  2003-05-10       Impact factor: 79.321

Review 2.  Current perspectives on pyridoxine-dependent seizures.

Authors:  S M Gospe
Journal:  J Pediatr       Date:  1998-06       Impact factor: 4.406

3.  Absence of pyridoxine-5'-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA.

Authors:  E O Ngo; G R LePage; J W Thanassi; N Meisler; L M Nutter
Journal:  Biochemistry       Date:  1998-05-26       Impact factor: 3.162

4.  Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Authors:  Philippa B Mills; Robert A H Surtees; Michael P Champion; Clare E Beesley; Neil Dalton; Peter J Scambler; Simon J R Heales; Anthony Briddon; Irene Scheimberg; Georg F Hoffmann; Johannes Zschocke; Peter T Clayton
Journal:  Hum Mol Genet       Date:  2005-03-16       Impact factor: 6.150

5.  Familial intrauterine convulsions in pyridoxine dependency.

Authors:  M Bejsovec; Z Kulenda; E Ponca
Journal:  Arch Dis Child       Date:  1967-04       Impact factor: 3.791

6.  Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy.

Authors:  H-S Wang; M-F Kuo; M-L Chou; P-C Hung; K-L Lin; M-Y Hsieh; M-Y Chang
Journal:  Arch Dis Child       Date:  2005-05       Impact factor: 3.791

7.  Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine.

Authors:  Meng-Fai Kuo; Huei-Shyong Wang
Journal:  Pediatr Neurol       Date:  2002-02       Impact factor: 3.372

8.  Vitamin B-6 status indices are lower in pregnant than in nonpregnant women but urinary excretion of 4-pyridoxic acid does not differ.

Authors:  P R Trumbo; J W Wang
Journal:  J Nutr       Date:  1993-12       Impact factor: 4.798
  8 in total
  2 in total

1.  The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

Authors:  Déborah Mathis; Lucia Abela; Monique Albersen; Céline Bürer; Lisa Crowther; Karin Beese; Hans Hartmann; Levinus A Bok; Eduard Struys; Sorina M Papuc; Anita Rauch; Martin Hersberger; Nanda M Verhoeven-Duif; Barbara Plecko
Journal:  J Inherit Metab Dis       Date:  2016-06-24       Impact factor: 4.982

Review 2.  Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias.

Authors:  Andrea Ricci; Elena Di Pierro; Matteo Marcacci; Paolo Ventura
Journal:  Diagnostics (Basel)       Date:  2021-11-26
  2 in total

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