UNIT 17.9 Diagnosis of Copper Transport Disorders

  1. Lisbeth B. Møller1,
  2. Julia D. Hicks2,
  3. Courtney S. Holmes3,
  4. David S. Goldstein3,
  5. Cornelia Brendel4,
  6. Peter Huppke4,
  7. Stephen G. Kaler2

Published Online: 1 JUL 2011

DOI: 10.1002/0471142905.hg1709s70

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Møller, L. B., Hicks, J. D., Holmes, C. S., Goldstein, D. S., Brendel, C., Huppke, P. and Kaler, S. G. 2011. Diagnosis of Copper Transport Disorders. Current Protocols in Human Genetics. 70:17.9:17.9.1–17.9.33.

Author Information

  1. 1

    Kennedy Centre, Glostrup, Denmark

  2. 2

    Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland

  3. 3

    Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland

  4. 4

    Department of Pediatric Neurology, Georg August University, Göttingen, Germany

Publication History

  1. Published Online: 1 JUL 2011
  2. Published Print: JUL 2011


Techniques for the diagnosis of copper transport disorders are increasingly important due to recent recognition of previously unappreciated clinical phenotypes and emerging advances in the treatment of these conditions. Here, we collate the diagnostic approaches and techniques currently employed for biochemical and molecular assessment of at-risk individuals in whom abnormal copper metabolism is suspected. Curr. Protoc. Hum. Genet. 70:17.9.1-17.9.33 © 2011 by John Wiley & Sons, Inc.


  • catechols;
  • copper;
  • Menkes disease;
  • Multiplex Ligation-Dependent Probe Amplification;
  • multiplex polymerase chain reaction;
  • polymerase chain reaction;
  • Wilson disease