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Aceruloplasminemia
Abstract
Ceruloplasmin is a ferroxidase enzyme that in humans is encoded by the CP gene.Ceruloplasmin is the major copper-carrying protein in the blood and in addition plays a role in iron metabolism. It is an enzyme synthesized in the liver containing 6 atoms of copper in its structure. Mutations in the ceruloplasmin gene can lead to the rare genetic human disease aceruloplasminemia, characterized by iron overload in the brain, liver, pancreas and retina. The most important clinical application of the ceruloplasmin test is in the diagnosis of various dreadful diseases like Wilson’s disease, copper deficiency syndrome, Menkes kiny hair syndrome, nephrotic syndromes, malabsorption and with some cases of advanced liver disease in which decreased level of serum proteins have occurred. Ceruloplasmin is high in a variety of neoplastic and inflammatory states. The antioxidant effects of ceruloplasmin could have important implications for various neurodegenerative diseases such as Parkinson’s disease and Alzheimer’s disease in which iron deposition is known to occur.
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