Hart D B
J Am Acad Dermatol. 1983 Jul;9(1):145-52. doi: 10.1016/s0190-9622(83)70121-0.
Menkes' syndrome is an X-linked recessive multisystem disease which is usually fatal prior to 5 years of age. Though originally felt to be a disorder of copper deficiency, it now appears to be a copper storage disease, with the observed defects resulting from inappropriate systemic copper distribution. Disorders in the metabolism of metallothionein, a metalloprotein involved in cellular copper transport, may be the primary defect in this syndrome. This review summarizes the relevant clinical and pathologic findings seen in this condition to date. It also describes some of the abnormalities in the metabolism of copper and metallothionein in these infants.
门克斯综合征是一种X连锁隐性多系统疾病，通常在5岁前致命。尽管最初认为它是一种铜缺乏症，但现在看来它是一种铜储存疾病，观察到的缺陷是由于全身铜分布不当所致。金属硫蛋白是一种参与细胞铜转运的金属蛋白，其代谢紊乱可能是该综合征的主要缺陷。本综述总结了迄今为止在这种疾病中观察到的相关临床和病理发现。它还描述了这些婴儿铜和金属硫蛋白代谢中的一些异常情况。
