Therapeutic implications of copper deficiency in Menkes's steely-hair syndrome.

Therapeutic implications of copper deficiency in Menkes's steely-hair syndrome.The clinical features and state of copper deficiency is reported in 3 children with Menkes's steely-hair syndrome.Therapy with intramuscular copper EDTA in one child successfully raised plasma copper levels but had no effect on the child's neurological status.Early diagnosis in the child at risk before neurological damage has occurred, followed by parenteral therapy with copper EDTA, offers the best management at present of this disease.Copper deficiency in children with Menkes's kinky-hair syndrome was first reported in 1972 by Danks et al. (1972b).In 2 children studied, copper absorption appeared defective.The purpose of this report is to describe briefly the clinical features of 3 children with this disorder, to report further observations of their state of copper deficiency, and to relate these observations to the management of this condition.In addition, details of parenteral treatment of copper deficiency in one child is presented.Some details of copper studies from these children from Sydney were briefly reported by Danks et al. (1972b).Danks, Cartwright, and Stevens (1973) have recently suggested that the term 'kinky hair' is misleading and that the term 'steely hair' more accurately describes the appearance of the hair in this syndrome.We have adopted this name, therefore.