Menkes disease
Menkes disease
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DOI：
10.1038/ejhg.2009.187
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发表时间：
2010-05-10
影响因子：
5.2
通讯作者：
Moller, Lisbeth B.
中科院分区：
文献类型：
--
作者：
Tumer, Zeynep;Moller, Lisbeth B.
门克斯病(MD)是一种致命性的多系统铜代谢紊乱。主要表现为进行性神经变性和结缔组织紊乱，以及特殊的“卷曲”头发。MD是一种X连锁隐性遗传，正如预期的那样，绝大多数患者是男性。MD的发生是由于ATP7A基因的突变，绝大多数ATP7A突变是基因内突变或部分基因缺失。ATP7A是一种能量依赖的跨膜蛋白，参与了铜向分泌的铜酶的运输和细胞中多余铜的输出。受严重影响的MD患者通常在生命第三年前死亡。目前还没有治愈这种疾病的方法，但很早就进行组氨酸铜治疗可能会纠正一些神经症状。
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms.