A patient with Wilson’s disease is described who presented with dystonic tremor in a family with an apparent dominant history of tremor. Subsequent investigation showed that the patient’s mother had essential tremor, with molecular analysis of the ATP7B gene excluding the possibility of pseudodominant inheritance. This case highlights the importance of considering the possibility of Wilson’s di...

Body copper homeostasis is regulated by the liver, which removes excess copper via bile. In Wilson’s disease (WD), this function is disrupted due to inactivation of the copper transporter ATP7B resulting in hepatic copper overload. High urinary copper is a diagnostic feature of WD linked to liver malfunction; the mechanism behind urinary copper elevation is not fully understood. Using Positron ...

Morphological identification of lysosomes was established by acid phosphatase reaction [1]. Pericanalicular lysosomes exhibited lead deposits after incubating liver slices with a lead and phosphate solution under acidic condition. Transitional elements, copper and iron, are stored in lysosomes as detoxified forms of cuprothioneins and hemosiderins, respectively. Genetic background of adult-onse...

Hepatic Wilson's disease is often a difficult diagnosis to confirm. This review examines the current role of genetic tests for Wilson's disease and is aimed at clinicians caring for patients with this disease. We discuss how genetic testing is carried out for Wilson's disease, indications for these tests, and genetic counseling for the family. In contrast to the advances in diagnosis of Wilson'...

Wilson's disease (WD) is a rare inherited disorder of copper metabolism and the main manifestations are liver and brain disorders. Hemolytic anemia is an unusual complication of WD. We describe a 15-year-old girl who developed hemolytic anemia as the first manifestation of Wilson's disease. An Arg952Lys mutation was found in exon 12 of the ATP7B gene, which is uncommon among Chinese Han individ...

An automated procedure is presented for the enzymatic determination of serum uric acid on both the AutoAnalyzer and the Robot Chemist. The procedure measures as the neocuproine complex, the difference in the amount of Cu+ formed by reaction of a Cu++ aIkanoIamine buffered solution with serum uric acid under precisely controlled conditions before and after uricase treatment of the serum. The dif...