edlled by JOHN H. WOTlZ Southern Illinois University Carbondale, Illinois 62901
A Coincidence in Copper Metabolism J o h n Webb Murdoch Uniuersity Murdoch, Western Australia 6153 Menkes' kinky hair syndrome in children, first described by Dr. John Menkes and co-workers in 1962 ( 1 ) . is characterized by slow growth and progressive brain degeneration with death occurring before three years of age. The disease occurs only in male children, and careful studies of family histories show that it is inherited in a sex-linked manner, i.e., via the X-chromosome. The hair is of an unusual and characteristic appearance, described in clinical terms as pili torti (Latin: pili-hair; torti-twisted), hence the name "kinky hair"syndrome. Subsequent reports suggested that the condition was extremely rare. However, in 1972 seven new cases, from five families, were seen in a large city hospital during a three-year period (2.3).The freauencv - of the disease is esti) birtds. matedto be 1in 3 5 , 0 ~live These later reports drew attention to other features of the condition, namely, an unusually low and unstable body temperature (one child was admitted to hospital with a body temperature of 28.g°C, as compared with the normal 37°C) and abnormal lengthening and twisting of many arteries, particularly those in the brain. Yet until 1972 the hiochemical defect giving rise to the disease was not known. In the process of discovery of the metabolic basis of the disease the above changes in the arteries and in the hair provided important clues. These two aspects of the disease are comparable to two effects of copper deficiency in animals, in particular, sheep. Wool of copper-deficient sheep has been known for many vears to be of an unusual shaoe, termed "steelv wool" in one ;sage. This modified wool is quite different from wool of the normal animal and is characteristic of the deficiencv condition. I t contitux stra~ghtlustrous fibers tmtirt4y devoid of the usual crimp, has ronsiderahlv hwer strenah - (about 40% and abnormal k~asticproperties
