CASE REPORT
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
1 Centre for Paediatrics, Department of Neonatology, University of Bonn, Germany
2 Institute of Human Genetics, University of Heidelberg, Germany
3 Department of General Paediatrics, University of Heidelberg, Germany
4 Department of Paediatric Neurology, University of Heidelberg, Germany
5 Department of Paediatric Neurology, University of Essen, Germany
Correspondence to:
Dr A R Franz, Department of Neonatology, Centre for Paediatrics, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany; axel.franz{at}ukb.uni-bonn.de
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.
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in ADC Online
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
