copper - boggart

[ArchivalUser]

can someone tell me the levels of copper in the

blood
liver

in:

-Menkes
-Wilsons
-vitamin def.

and the relationship to ceruloplasmin?

[ArchivalUser]

menkes: xlinked rec..mut coding for protein transporter for Cu efflux....reduced Cu availabilty causes collagen post translational mod problems in terms of lysyl oxidase working to stabilize fibrils allowing for tensile strength....clinically manifest with arterial tortuosity...aneuryms, steely depigmented hair, OP, anemia cerebral degeneration.
The actual problem leads to accumulation of Cu in cells esp GI but functional deficiency as body cannot gain access to Cu that accumulates in the cells.

Let someone else go for next on the list...

[ArchivalUser]

Wilson's disease, AR, defect in copper secretion into bile, PE-chronic liver disease-decrease in ceruloplasmin synthesis-low total copper levels-increase in free copper levels in blood
Copper deposits in Descemet's membrane in the eye (Kayser-Fleisher ring) and lenticular nuclei (dementia, choreoathetosis)