COPPER DEFICIENCY SECONDARY TO A COPPER TRANSPORT DEFECT - A NEW COPPER METABOLIC DISTURBANCE

We describe a 21-year-old man who developed copper deficiency manifest ed as a demyelinating neuropathy, chronic intestinal pseudo-obstructio n, osteoporosis, testicular failure, retinal degeneration, and cardiom yopathy with a tortuous aorta. His serum copper was low and did not in crease despite administration of large doses of intravenous copper sul fate. The ceruloplasmin level as measured by an antibody technique was normal, yet ceruloplasmin (Cp) oxidase activity was very low. The Cp amino acid sequence was normal. This suggests that the copper deficien cy was caused by a defect in hepatic processing of copper for incorpor ation into Cp.