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

Pediatr Res. 1997 Dec;42(6):862-5. doi: 10.1203/00006450-199712000-00023.

Abstract

We determined the concentrations of copper, the activities of ceruloplasmin and peptidylglycine alpha-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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Biological Transport
  • Case-Control Studies
  • Ceruloplasmin / metabolism
  • Child, Preschool
  • Copper / blood
  • Copper / deficiency
  • Copper / pharmacology*
  • Humans
  • In Vitro Techniques
  • Male
  • Menkes Kinky Hair Syndrome / genetics*
  • Mixed Function Oxygenases / blood*
  • Multienzyme Complexes*
  • Occipital Bone*
  • Stimulation, Chemical

Substances

  • Multienzyme Complexes
  • Copper
  • Mixed Function Oxygenases
  • peptidylglycine monooxygenase
  • Ceruloplasmin