磷酸吡哆醛依赖性新生儿癫痫性脑病
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.
作者信息
Bagci S, Zschocke J, Hoffmann G F, Bast T, Klepper J, Müller A, Heep A, Bartmann P, Franz A R
机构信息
Centre for Paediatrics, Department of Neonatology, University of Bonn, Germany.
出版信息
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.11.2008.1247. Epub 2009 May 10.
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.
摘要
磷酸吡哆（醛）胺-5'-磷酸氧化酶将磷酸吡哆醇和磷酸吡哆胺转化为磷酸吡哆醛，磷酸吡哆醛是许多代谢反应中的一种辅助因子，包括神经递质合成。本文描述了一个家系，其磷酸吡哆（醛）胺-5'-磷酸氧化酶基因突变，新生儿癫痫发作对吡哆醇和抗惊厥治疗无反应，但对磷酸吡哆醛有反应。对于对吡哆醇无反应的新生儿癫痫性脑病，应考虑使用磷酸吡哆醛。
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