Ozawa M, Aoki T
Department of Second Pediatrics, Toho University School of Medicine.
Nihon Rinsho. 1996 Jan;54(1):117-22.
Because copper is an integral component of various enzymes in every cells, it has been known to be essential for cell activities. Copper is also a very toxic ion, so a specific series of copper transport process must exist to carry copper to the sites where it is required, and to ensure copper homeostasis without allowing toxic accumulation. Wilson disease and Menkes disease are the inherited diseases caused by genetic defects in copper metabolism. Wilson disease is related to the toxic effects of copper accumulation in liver, which leads to progressive liver damage and subsequent overflow to brain causing a loss of coordination and involuntary movement. Menkes disease is caused by the deficiency of serum copper and of copper-dependent enzymes, in various tissues except liver which characterized by neurologic degeneration and mental retardation, connective tissue and vascular defects, characteristic brittle and depigmented hair, and death in early childhood.
由于铜是每个细胞中各种酶的重要组成部分，已知其对细胞活动至关重要。铜也是一种毒性很强的离子，因此必须存在一系列特定的铜转运过程，将铜输送到需要它的部位，并确保铜的体内平衡，而不允许其毒性积累。威尔逊病和门克斯病是由铜代谢遗传缺陷引起的遗传性疾病。威尔逊病与肝脏中铜积累的毒性作用有关，这会导致进行性肝损伤，随后铜溢出到大脑，导致协调能力丧失和不自主运动。门克斯病是由血清铜和铜依赖性酶缺乏引起的，除肝脏外，在各种组织中表现为神经退行性变和智力迟钝、结缔组织和血管缺陷、特征性的脆发和色素脱失，以及在幼儿期死亡。
