Relative exchangeable copper: a promising tool for family screening in Wilson disease

Mov Disord. 2014 Apr;29(4):558-62. doi: 10.1002/mds.25763. Epub 2013 Dec 27.


Background: Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.

Methods: Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters.

Results: Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%.

Conclusions: Exchangeable copper appears to be a promising tool for family screening in Wilson disease.

Keywords: ATP7B; Wilson disease; family screening; relative exchangeable copper.

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adolescent
  • Adult
  • Cation Transport Proteins / genetics
  • Child
  • Child, Preschool
  • Copper / blood*
  • Copper-Transporting ATPases
  • Female
  • Hepatolenticular Degeneration / blood
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Young Adult


  • Cation Transport Proteins
  • Copper
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases