目的：探讨ATP7A基因新生变异导致的Menkes病的临床特点、分类、治疗及预后。方法：分析1例ATP7A基因新生变异致Menkes病患儿的临床资料并进行文献回顾。结果：患儿皮肤白，头发稀疏、灰黄、卷曲，有神经系统症状，患儿头发显微镜下观察发现发色浅、毛糙、呈串珠样改变，血铜蓝蛋白<20 mg·L^-1，捕获测序拷贝数变异发现ATP7A2-14号外显子缺失，诊断Menkes病。结论：Menkes病是由铜代谢缺陷引起的致死性神经退行性疾病，目前Menkes病缺乏有效治疗方法，多采用皮下注射组胺铜，对于年龄超过2个月的患儿症状改善不明显，但早期明确诊断有利于遗传咨询。

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