Holtzman N A
Fed Proc. 1976 Sep;35(11):2276-80.
The kinky hair syndrome (KHS) is an X-linked defect of copper transport in man. An animal model is available in mutants at the X-linked mottled locus in mice. The defect does not involve the uptake of copper from the intestinal lumen but rather the transport of copper from intestinal cells. The reduced activity of several copper-dependent enzymes and the lower copper content of serum, liver, and probably brain account for the manifestations of the disorder which are evident at, or shortly after, birth. Intrauterine involvement is likely but prenatal diagnosis is not yet possible. Although the delivery of iron to the erythropoietic system, and its utilization, are impaired in nutritionally induced copper deficiency, as is neutrophil production, these processes appear normal in KHS. thus, adequate copper to carry them out is available in KHS. While there may be more than one transport system for copper (only one of which is affected in KHS) it is also possible that the hematopoietic tissue in KHS, like the intestinal cells, has abnormally high afficity for copper. The presence of multiple alleles at the KHS locus (and at other genetic loci) in man, which cause different degrees of reduction in copper transport, could account for variations in the susceptibility to copper deficiency observed in infant populations.
曲发综合征（KHS）是人类中一种X连锁的铜转运缺陷疾病。在小鼠X连锁斑驳位点的突变体中有可用的动物模型。该缺陷不涉及从肠腔摄取铜，而是涉及铜从肠细胞的转运。几种铜依赖性酶的活性降低以及血清、肝脏（可能还有大脑）中铜含量降低，导致了该疾病在出生时或出生后不久就明显出现的症状。子宫内可能受累，但目前尚无法进行产前诊断。尽管在营养性铜缺乏时，铁向造血系统的输送及其利用会受损，中性粒细胞生成也会受损，但这些过程在KHS中似乎正常。因此，KHS中有足够的铜来进行这些过程。虽然可能有多种铜转运系统（其中只有一种在KHS中受到影响），但也有可能KHS中的造血组织与肠细胞一样，对铜具有异常高的亲和力。人类KHS位点（以及其他基因位点）存在多个等位基因，它们会导致铜转运不同程度的降低，这可能解释了婴儿群体中观察到的对铜缺乏易感性的差异。
