Cśruloplasmin - the Pathology

Menke's Disease

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.