Pyridoxine-Dependent Seizures Caused by Alpha Amino Adipic Semialdehyde Dehydrogenase Deficiency: The First Polish Case With Confirmed Biochemical and Molecular Pathology
Pyridoxine-Dependent Seizures Caused by Alpha Amino Adipic Semialdehyde Dehydrogenase Deficiency: The First Polish Case With Confirmed Biochemical and Molecular Pathology
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DOI：
10.1177/0883073808318543
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发表时间：
2008-12-01
影响因子：
1.9
通讯作者：
Jozwiak, Sergiusz
中科院分区：
文献类型：
--
作者：
Kaczorowska, Magdalena;Kmiec, Tomasz;Jozwiak, Sergiusz
吡哆醇依赖性癫痫发作是一种罕见的疾病，当许多癫痫发作响应吡哆醇治疗和吡哆醇停药后复发。几十年来，只有通过维生素B6治疗停药试验才能证实诊断。最近描述的生化和分子病理学改善了诊断过程中的癫痫发作是由α氨基己二酸半醛脱氢酶缺乏症引起的。本文介绍了一个女孩反复癫痫持续状态发作耐苯巴比妥和苯妥英钠和部分响应咪达唑仑。最终，癫痫发作被吡哆醇完全控制;然而，由于该儿童癫痫发作时病情严重，未进行停药试验。吡哆醇依赖性癫痫发作的诊断得到证实，生化和分子检测显示α-AASA排泄升高，antiquitin（ALDH 7A 1）基因存在2种不同突变。由于可靠的实验室检测的可用性，在没有进行危及生命的吡哆醇停药试验的情况下确认了诊断。
Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnostic process for those cases in which seizures are caused by alpha amino adipic semialdehyde dehydrogenase deficiency. This article presents a girl with recurrent Status epilepticus episodes resistant to phenobarbital and phenytoin and partly responding to midazolam. Eventually the seizures were completely controlled with pyridoxine; however, due to the severe condition of this child when seizing, no trial of withdrawal has been performed. The diagnosis of pyridoxine-dependent seizures was confirmed with biochemical and molecular testing revealing elevated alpha-AASA excretion and the presence of 2 different mutations in the antiquitin (ALDH7A1) gene. Due to the availability of reliable laboratory testing, confirmation of the diagnosis was made without the life-threatening trial of pyridoxine withdrawal.