Pyridoxal phosphate-dependent neonatal epileptic encephalopathy | Zendy

Soyhan Bağcı | Zendy; Johannes Zschocke | Zendy; G. F. Hoffmann | Zendy; Thomas Bast | Zendy; Jörg Klepper | Zendy; A Müller | Zendy; A Heep | Zendy; Peter Bartmann | Zendy; Axel R. Franz | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Author(s) -

Soyhan Bağcı,

Johannes Zschocke,

G. F. Hoffmann,

Thomas Bast,

Jörg Klepper,

A Müller,

A Heep,

Peter Bartmann,

Axel R. Franz

Publication year - 2009

Publication title -

bmj case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.231

H-Index - 26

ISSN - 1757-790X

DOI - 10.1136/bcr.11.2008.1247

Subject(s) - pyridoxine , pyridoxamine , medicine , pyridoxal phosphate , pyridoxal , phosphate , pyridoxal 5 phosphate , biochemistry , epilepsy , cofactor , pharmacology , chemistry , enzyme , psychiatry

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research