Copper Metabolism in the Steely-Hair Syndrome

STEELY-hair syndrome, described by Menkes et al. in 1962¹is characterized by pili torti, developmental regression, seizures, temperature instability, arterial intimal abnormalities, and scorbutic bone changes.²Danks et al. have suggested that these manifestations are due to systemic copper deficiency and have demonstrated severely diminished copper concentrations in blood, brain, and liver of patients with the syndrome.³The copper deficiency appears to result from an impaired intestinal absorption of copper which is probably related to a defective transport of the ion across the serosal cell membrane. In an attempt to clarify the nature of the absorption defect, we performed copper.