Copper in health test tubes that damaged DNA in the cells of a Menkes patient can be repaired. In time, the procedures needed to repair damaged genes in the human body may be found. Wilson's disease is a rare autosomal (chromosome 13) recessive genetic disorder of copper transport that causes an excess of copper to build up in the liver. This results in liver toxicity, among other symptoms. The disease is now treatable. Wilson's disease is produced by mutational defects of a protein that transports copper from the liver to the bile for excretion. The disease involves poor incorporation of copper into ceruloplasmin
Aceruloplasminemia chelating agents (such as desferrioxamine) to lower serum ferritin concentration, brain and liver iron stores, and to prevent progression of neurologic symptoms. This, combined with fresh-frozen human plasma (FFP) effectively in decreasing liver iron content. Repetitive use of FFP can even improve neurologic symptoms. Antioxidants such as vitamin E can be used simultaneously to prevent tissue damage to the liver and pancreas. Aceruloplasminemia Aceruloplasminemia is a rare autosomal recessive disorder in which the liver can not synthesis the protein ceruloplasmin properly, which is needed to transport copper around the blood. Copper deficiency in the brain results in neurological problems that