In vitro copper stimulation of plasma peptidylglycine α-amidating monooxygenase in menkes disease variant with occipital horns

Academic Article


  • We determined the concentrations of copper, the activities of ceruloplasmin and peptidylglycine α-amidating monooxygenase (PAM), and the stimulation index of PAM by the in vitro addition of copper in plasma samples obtained from three male patients with occipital horns and a milder Menkes disease phenotype, having severe copper deficiency due to the defect in copper transport. We found a decreased plasma ceruloplasmin activity and an increased copper stimulation index of plasma PAM in these patients compared with healthy control subjects. The combination of these two determinations may provide a means for the assessment of copper nutriture in humans using blood samples obtained in a single microhematocrit tube. Further investigation is warranted to evaluate whether these noninvasive measurements can be used for the diagnosis of mild copper deficiency in humans with sufficient specificity and sensitivity.
  • Authors

    Published In

  • Pediatric Research  Journal
  • Digital Object Identifier (doi)

    Author List

  • Prohaska JR; Tamura T; Percy AK; Turnlund JR
  • Start Page

  • 862
  • End Page

  • 865
  • Volume

  • 42
  • Issue

  • 6