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Diagnosis of Wilson disease is particularly challenging: no single laboratory test or clinical finding exists to establish or rule out definitive diagnosis. Early diagnosis, however, is crucial, as timely therapy may maintain normal life expectancy. If Wilson disease is suspected, the complete diagnostic battery of physical examinations and laboratory tests including liver biopsy with measurement of hepatic copper content has to be performed. Neither normal serum ceruloplasmin, urinary copper levels, nor absent Kayser-Fleischer rings exclude the disease.

Ceruloplasmin serum levels less than 20 mg/dL are suspect for Wilson disease, although normal concentrations are seen in 5-25% of patients; moreover, 10-30% of heterozygous carriers display lowered ceruloplasmin levels. Decreased ceruloplasmin is also observed in patients with chronic liver disease of other etiology[14] and can be absent in cases of aceruloplasminemia.

Reduced serum copper concentrations below 60 pg/dL may be found in Wilson disease. However, most patients show normal copper levels and up to one third of heterozygous carriers exhibit decreased serum copper.[10] In contrast, the determination of serum free copper reveals increased concentrations in Wilson disease.

Measurement of 24-hr urinary copper excretion represents a valuable diagnostic test. Individuals who excrete >100 pg (>1.6 pmol) in 24 hr are suspect for Wilson disease. Various chronic liver diseases and especially cholestatic diseases, however, might also increase urinary copper.[15] In addition, urinary copper excretion after D-penicillamine challenge should be measured in suspected Wilson disease. Urinary copper

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