Kinky Hair Disease

Abstract

• Metabolism of labeled Cu (⁶⁷Cu) was studied in three patients with kinky hair disease (KHD). Labeled Cu was administered first intravenously and, later, orally. We determined oral absorption, excretion, and internal kinetics of this metal. Patients with KHD absorbed 11% to 13% of Cu given orally, compared to 46% by unaffected controls. Total excretion of Cu given intravenously during the first seven days after administration was greatly reduced in patients with KHD. The biological half-life of⁶⁷Cu in patients with KHD was increased by a factor of 2 to 3 over the normal control. Most of the labeled Cu was retained by the patient's liver, while in the control subject there was more rapid movement of the Cu to circulation (ceruloplasmin). Red blood cells of patients with KHD incorporated orally administered Cu preferentially, which was sufficient to prevent anemia.