1962年Menkes等首先描述一种少见的性连代谢疾病,表现为婴儿早期生长迟缓,惊厥和低温。由于有典型的畸形头发,又称之为“卷发病”(kinky hair dis)。后Dankes等发现患者有血清铜和血浆铜蓝蛋白的缺乏,以及铜通过小肠表皮的缺陷,但是胃肠道外给予足够增加血清铜浓度的铜剂并不能改变本病的临床过程。 In 1962 Menkes first described a rare case of sex with metabolic diseases, manifested as early infant growth retardation, convulsions and hypothermia. Due to the typical deformity hair, also known as “kinky hair dis” (kinky hair dis). Later Dankes et al. Found that patients lacked serum copper and ceruloplasmin and defects in the passage of copper through the small intestine. However, parenteral administration of copper agents sufficient to increase serum copper concentrations did not alter the clinical course of the disease.