使用vigabatrin进行治疗可能会模拟α-氨基己二酸尿症。
Treatment with vigabatrin may mimic alpha-aminoadipic aciduria.
作者信息
Vallat C, Rivier F, Bellet H, Magnan de Bornier B, Mion H, Echenne B
机构信息
Laboratoire de Biochimie B, Hôpital Saint-Eloi, CHU de Montpellier, Montpellier, France.
出版信息
Epilepsia. 1996 Aug;37(8):803-5. doi: 10.1111/j.1528-1157.1996.tb00655.x.
PURPOSE
We describe a secondary effect of treatment with vigabatrin (VGB). A significant increase in alpha-aminoadipic acid (AAA) occurred in plasma and urine of VGB-treated children, thus mimicking a known rare metabolic disease, alpha-aminoadipic aciduria (AAAuria).
METHODS
We studied eight children, aged from 3 months to 5 years, who were receiving VGB for drug-resistant partial epilepsies. Plasma and urine amino acids were assayed with ninhydrin detection on an automated Beckman 6300 analyzer.
RESULTS
In eight out of eight children, there was a significant increase of AAA in plasma and in urine. Plasma values ranged from 7 to 8 microM (control values, < 5) and urinary values from 67 to 274 mmol/mol creatinine (control values, < 25).
CONCLUSIONS
The concentrations of AAA in these VGB-treated children were as high as the concentrations found in the inherited metabolic disease, AAAuria. This could lead to incorrect diagnosis and to inappropriate genetic counseling. Thus whenever a genetic metabolic disease is suspected, amino acid chromatography testing should be performed before initiation of treatment with VGB.
目的
我们描述了vigabatrin（VGB）治疗的一种次要效应。在接受VGB治疗的儿童的血浆和尿液中，α-氨基己二酸（AAA）显著增加，从而类似于一种已知的罕见代谢疾病——α-氨基己二酸尿症（AAAuria）。
方法
我们研究了8名年龄在3个月至5岁之间、因耐药性部分癫痫而接受VGB治疗的儿童。在自动贝克曼6300分析仪上，采用茚三酮检测法测定血浆和尿液中的氨基酸。
结果
8名儿童的血浆和尿液中AAA均显著增加。血浆值范围为7至8微摩尔（对照值，<5），尿液值范围为67至274毫摩尔/摩尔肌酐（对照值，<25）。
结论
这些接受VGB治疗的儿童中AAA的浓度与遗传性代谢疾病AAAuria中发现的浓度一样高。这可能导致错误诊断和不适当的遗传咨询。因此，每当怀疑患有遗传性代谢疾病时，在开始使用VGB治疗前应进行氨基酸色谱检测。
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