In VitroCopper Stimulation of Plasma Peptidylglycineα-Amidating Monooxygenase in Menkes Disease Variant with Occipital Horns
作者:
PROHASKA JOSEPH,
TAMURA TSUNENOBU,
PERCY ALAN,
TURNLUND JUDITH,
期刊:
Pediatric Research
(OVID Available online 1997)
卷期:
Volume 42,
issue 6
页码: 862-865
ISSN:0031-3998
年代: 1997
出版商: OVID
数据来源: OVID
摘要:
We determined the concentrations of copper, the activities of ceruloplasmin and peptidylglycine α-amidating monooxygenase (PAM), and the stimulation index of PAM by thein vitroaddition 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.
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