Cæruloplasmin - the Pathology
Affects about 1 in 200,000 people. It is caused by a defect in intestinal
copper absorption, this results in abnormally low levels of ceruloplasmin
(and copper). Menke's is a genetic disorder (affecting the MNK
gene) with symptoms including extreme mental retardation, and collagen
abnormalities which cause soft bones and cartilage as well as weakened artery
walls. The collagen abnormality also gives the disease the title "Menke's
kinky hair syndrome". Children with disease rarely survive more than a few
years. The MNK protein primarily resides in the Trans-Golgi Network (TGN) and
cycles between the TGN and cell surface in response to varying intracellular
copper concentration.
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