ABSTRACT
Menkes and colleagues [1] in 1962 described a disorder in five patients in which progressive cerebral deterioration was associated with characteristic abnormalities of the hair. The hair has been referred to as kinky [2], but it is anything but kinky. It is short and tends to stand on end, assuming a brush-like appearance (Figures 74.1, 74.2). It has been called steely hair by Danks [3]. It looks to us something like steel wool, but in Australia the wool of copper-deficient sheep has long been called steely. It was recognized in the initial report [1] that the disease was transmitted as an X-linked recessive trait. It was the recognition by Danks and colleagues [4,5] that the hair resembled the appearance of wool of copperdeficient sheep that led to their characterization of the disease as a disorder of copper transport. Copper deficiency in sheep leads to deficiency in the formation of cross-linking disulfide bonds in the keratin of the wool.
