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Hepatic copper content is increased in 82% of patients with Wilson disease and usually exceeds 250 µg/g dry weight (normal: up to 50 µg/g). In the absence of other tests suggestive for abnormal copper metabolism, diagnosis of Wilson disease cannot be...

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Diagnosis is far more complex in patients presenting with liver diseases. None of the commonly used parameters alone allows for a certain diagnosis of Wilson disease. Usually a combination of various laboratory parameters is necessary to establish the...

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The diagnosis of Wilson disease is usually made on the basis of clinical findings and laboratory abnormalities. According to Sternlieb Scheinberg (1979), diagnosis of Wilson disease http://en.wikipedia.org/wiki/Wilson's_disease can be made if two of the...

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About one-third of patients initially present with psychiatric abnormalities. Symptoms can include reduced performance in school or at work, depression, a very labile mood, sexual exhibitionism and frank psychosis. Frequently, adolescents with problems...

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Wilson disease may present, particularly in young patients, with a clinical syndrome indistinguishable from chronic active hepatitis of another etiology. Symptoms include malaise, fatigue, anorexia and vague abdominal complaints. Arthralgias, amenorrhea,...

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Acute Wilsonian hepatitis is indistinguishable from other forms of acute (viral or toxic) liver diseases. It should be suspected in young patients with acute non-viral hepatitis. Liver histology often reveals the presence of cirrhosis. This initial episode...

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Characteristically, the ring starts as a small crescent of golden brown granular pigment seen at the top of the limbus. This is followed by the appearance of a lower crescent, and these two crescents gradually broaden, meet laterally and form complete...

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Wilson disease may present at any age, the oldest reported case was 76 years at the time of diagnosis. The clinical symptoms are highly variable, the most common ones being liver disease and neuropsychiatric disturbances. Children usually present with...

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Copper is an essential nutrient needed for such diverse processes as mitochondrial respiration (cytochrome C), melanin biosynthesis (tyrosinase), dopamine metabolism (DOPA-mono-oxygenase), iron homeostasis (ceruloplasmin), antioxidant defense (superoxide...

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The Wilson disease gene was localized to human chromosome 13 by cosegregation of the disease with the red cell enzyme marker, esterase D, in several large Middle Eastern kindred. Further linkage analysis of additional families, using more polymorphic...

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