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
Liver small bile ducts of the liver, with the intralobular ducts (Canals of Hering) affected early in the disease. When these ducts are damaged, bile and other toxins build up in the liver (cholestasis) and over time damages the liver tissue in combination with ongoing immune related damage. This can lead to scarring (fibrosis) and cirrhosis. Cirrhosis increases the resistance to blood flow in the liver, and can result in portal hypertension. Congested anastomoses between the portal venous system and the systemic circulation, can be a subsequent condition. Many diseases of the liver are accompanied by jaundice caused by increased levels