Literature DB >> 18296573

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.

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Year:  2008        PMID： 18296573     DOI： 10.1136/adc.2006.115162

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN： 1359-2998            Impact factor:   5.747


  19 in total

1.  Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.

Authors:  Faik N Musayev; Martino L Di Salvo; Mario A Saavedra; Roberto Contestabile; Mohini S Ghatge; Alexina Haynes; Verne Schirch; Martin K Safo
Journal:  J Biol Chem       Date:  2009-09-15       Impact factor: 5.157

2.  Current treatment and management of pyridoxine-dependent epilepsy.

Authors:  Clara D M van Karnebeek; Sravan Jaggumantri
Journal:  Curr Treat Options Neurol       Date:  2015-02       Impact factor: 3.598

3.  Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.

Authors:  Annapurna Sudarsanam; Harry Singh; Bridget Wilcken; Michael Stormon; Susan Arbuckle; Bernhard Schmitt; Peter Clayton; John Earl; Richard Webster
Journal:  JIMD Rep       Date:  2014-09-26

4.  Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.

Authors:  Jiao Xue; Xingzhi Chang; Yuehua Zhang; Zhixian Yang
Journal:  Metab Brain Dis       Date:  2017-03-27       Impact factor: 3.584

Review 5.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

6.  PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

Authors:  D Coman; P Lewindon; P Clayton; K Riney
Journal:  JIMD Rep       Date:  2015-06-25

7.  Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Authors:  Alina Levtova; Stephane Camuzeaux; Anne-Marie Laberge; Pierre Allard; Catherine Brunel-Guitton; Paola Diadori; Elsa Rossignol; Keith Hyland; Peter T Clayton; Philippa B Mills; Grant A Mitchell
Journal:  JIMD Rep       Date:  2015-03-12

8.  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

9.  Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.

Authors:  J Hatch; D Coman; P Clayton; P Mills; S Calvert; R I Webster; Kate Riney
Journal:  JIMD Rep       Date:  2015-08-25

10.  Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

Authors:  Levinus A Bok; Jasper V Been; Eduard A Struys; Cornelis Jakobs; Elisabeth A M Rijper; Michèl A Willemsen
Journal:  Eur J Pediatr       Date:  2009-07-09       Impact factor: 3.183
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