铜稳态紊乱:自闭症谱系障碍的致病因素及丙戊酸的副作用

Stephen I. Deutsch , David R. Spiegel , Jessica A. Burket
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引用次数: 2

摘要

23岁男性,诊断为自闭症谱系障碍,经丙戊酸治疗后出现急性肝功能衰竭;不到两个月后,他去世了。实验室检查诊断为威尔逊病。该病例提出了一个问题,即ASD中铜稳态被破坏的可能致病作用,以及丙戊酸治疗导致这种破坏的加剧。对铜稳态异常的筛查可能会刺激针对致病因素的治疗策略和避免禁忌药物。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Disrupted copper homeostasis: Pathogenic factor in autism spectrum disorder and side effect of valproic acid

A 23 year old male diagnosed with autism spectrum disorder and treated with valproic acid presented with acute onset of hepatic failure; he died less than two months later. Laboratory studies led to a diagnosis of Wilson Disease. The case raised questions about a possible pathogenic role of disrupted copper homeostasis in ASD, and exacerbation of this disruption as a result of treatment with valproic acid. Screening for abnormalities of copper homeostasis may stimulate strategies for therapeutic targeting of a contributing etiological factor and avoidance of contraindicated medications.

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