Wilson's disease is an inherited disorder leading to accumulation of copper in 
tissues, mainly in the liver and brain. Genetic defect is in the gene coding 
ATPase type P (ATP7B). The inheritance is autosomal recessive. Up to now, more 
then 500 mutations causing Wilson's disease were described. The most frequent 
mutation in Central Europe is mutation H1069Q. The manifestation of Wilson's 
disease is usually hepatic or neurologic. Hepatic form is manifested by acute or 
chronic hepatitis, steatosis or cirrhosis. Neurologic involvement is manifested 
usually after 20 year of age by motor disturbances (tremor, disturbed speech, 
problems with writing), which could progress into severe extrapyramidal syndrome 
with tremor, rigidity, dysartria, dysfagia and muscle contracture. Diagnosis is 
based on clinical and laboratory examinations (neurologic symptoms, liver 
disease, low serum ceruloplasmin levels, elevated free copper concentration in 
serum, high urine copper excretion, and presence of Kayser-Fleischer rings). 
Confirmation of diagnosis is done by hepatic copper concentration in liver 
biopsy or by genetic examination. Untreated disease leads to the death of a 
patient. Treatment is based on chelating agents decreasing the copper content by 
excretion into urine (D-penicillamine, trientine) or on agents preventing 
absorption of copper from food (zinc, ammonium-tetrahiomolybdene). Patients with 
asymptomatic Wilson's disease have to be treated as well. In Czech Republic 
either penicillamine or zinc are used. Liver transplantation is indicated in 
patients with fulminant liver failure or decompensated cirrhosis. Screening in 
families of affected patients (all siblings) is obvious.