Metabolic Disorders I
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Wilson disease (WD) is a human copper storage disease, resulting in the accumulation of copper primarily in the liver, but also in a number of other organs such as the brain, eyes, and kidneys. Copper is an essential metal which acts as a cofactor for many proteins. In normal human copper metabolism, the dietary intake of copper exceeds physiologic needs and is therefore excreted. Ceruloplasmin is an acute phase reactant; therefore, any disease that results in hepatic inflammation can cause elevation of ceruloplasmin. From a hepatic perspective, signs and symptoms may include asymptomatic elevation of aminotransferases, asymptomatic hepatomegaly, isolated splenomegaly, acute hepatitis, fatty liver, portal hypertension with possible associated gastrointestinal bleeding, cirrhosis, and/or fulminant hepatic failure. Additionally, disorders that reduce liver synthetic function can also reduce the ceruloplasmin. Hepatic presentations of WD include acute hepatitis, fulminant hepatic failure, chronic active hepatitis, and cirrhosis.