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Menkes病是1963年Menkes报告的男性乳儿早期发生的疾病.症状有进行性脑障Menkes病也叫纠结头发病,是一种先天性铜代谢异常性疾患.病因:1972年Danks等认为是铜在肠道内吸收障碍引起的疾病,以后研究,认为还有全身各组织铜转运异常.在胎儿皮肤成纤维细胞培养中发现细胞内铜积蓄增加,被认为是细胞内金属硫因(metallothionein)异常而致金属硫因和铜结合力增加,并发现在肾、肠道粘膜中铜浓度增加,而脑、血液
Menkes disease is a disease that occurs early in male males reported by Menkes in 1963. Symptoms are progressive brain disease Menkes disease is also called tangled head disease and is a congenital disorder of copper metabolism Etiology: Copper was considered by Danks et al in 1972 After intestinal absorption disorders caused by the disease, after the study, that all body tissues and copper transport abnormalities in the fetal skin fibroblast culture found in the accumulation of intracellular copper deposits, is considered to be intracellular metallothionein abnormalities Metal sulfur and copper binding increased, and found in the kidneys, intestinal mucosa increased copper concentration, and brain, blood