First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy

First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy

Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants. PDE has been shown to be caused by a defect of a α-aminoadipic semialdehyde dehydrogenase (also known as ALDH7A1 or antiqu...

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Bibliographic Details
Main Authors: Ješić Miloš M., Ješić Maja D., Buljugić Svetlana, Živanović Aleksandra
Format: Article
Language:English
Published: Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade 2017-01-01
Series:Vojnosanitetski Pregled
Subjects:
epilepsy
infant, newborn
vitamin B6
genetic diseases, inborn
diagnosis, differential
drug therapy
serbia
Online Access:http://www.doiserbia.nb.rs/img/doi/0042-8450/2017/0042-84501600244J.pdf
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