Copper deficiency secondary to a copper transport defect: A new copper metabolic disturbance

Alan L. Buchman, Carl L Keen, Harry V. Vinters, Edward Harris, Harry T. Chugani, Bronwyn Bateman, Dennis Rodgerson, Jorge Vargas, Anthony Verity, Marvin Ament

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

We describe a 21-year-old man who developed copper deficiency manifested as a demyelinating neuropathy, chronic intestinal pseudo-obstruction, osteoporosis, testicular failure, retinal degeneration, and cardiomyopathy with a tortuous aorta. His serum copper was low and did not increase despite administration of large doses of intravenous copper sulfate. 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 deficiency was caused by a defect in hepatic processing of copper for incorporation into Cp.

Original languageEnglish (US)
Pages (from-to)1462-1469
Number of pages8
JournalMetabolism
Volume43
Issue number12
DOIs
StatePublished - 1994

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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    Buchman, A. L., Keen, C. L., Vinters, H. V., Harris, E., Chugani, H. T., Bateman, B., Rodgerson, D., Vargas, J., Verity, A., & Ament, M. (1994). Copper deficiency secondary to a copper transport defect: A new copper metabolic disturbance. Metabolism, 43(12), 1462-1469. https://doi.org/10.1016/0026-0495(94)90002-7