现以明确肝豆状核变性（Ｗｉｌｓｏｎｄｉｓｅａｓｅ，ＷＤ）和发扭结综合征（Ｍｅｎｋｅｓｄｉｓｅａｓｅ，ＭＤ）的病因是基因异常，其控制基因的酶蛋白是Ｐ型三磷酸腺苷（ＡＴＰ）酶铜转移膜蛋白。ＭＤ是ＡＴＰ７Ａ，ＷＤ是ＡＴＰ７Ｂ。两种病基因极相似，但作用不一。ＭＤ是性联锁隐性遗传，以机体铜缺乏为主，ＷＤ是常染色体隐性遗传，以铜在体内堆积为主。本文就ＡＴＰ酶铜转移膜蛋白、铜代谢、ＷＤ病、ＭＤ基因以及病理生理作一叙述 It is now clear that the cause of Wilsondisease (WD) and kyphosis (MD) is genetic abnormality, and the enzyme that controls the gene is P-type adenosine triphosphate (ATP) copper transfer membrane protein. MD is ATP  7A, WD is ATP  7B. The two genes are very similar, but with different effects. MD is a sex-linked recessive inheritance, copper deficiency in the body-based, WD is autosomal recessive, copper-based accumulation in the body. This article describes the ATPase copper transfer membrane protein, copper metabolism, WD disease, MD gene and pathophysiology