Which of the following is true about WILSON disease
High copper in urine, high copper in serum
High ceruloplasmin
Low serum copper
Low urinary copper
Ans. c. Low serum copperWilson disease is characterized by low serum copper, low ceruloplasmin and high urinary excretion of copper. Wilson disease is characterized by: ATP7B protein deficiency impairs biliary copper excretion, resulting in positive copper balance, hepatic copper accumulation, and copper toxicity from oxidant damage.Defective copper incorporation into apoceruloplasmin leads to excess catabolism and low blood levels of ceruloplasmin.Serum copper levels are usually lower than normal because of low blood ceruloplasmin, which normally binds >90% of serum copper. As the disease progresses, nonceruloplasmin serum copper ("free" copper) levels increase, resulting in copper buildup in other pas of the body, such as the brain, leading to neurologic and psychiatric disease.