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...

Progressive lenticular degeneration, or Wilson’s disease (WD), even though being a rare condition, has major relevance in the field of movement disorders for it constitutes the first example of progressive neurologic deterioration caused by a toxic mechanism as a result of biochemical abnormality1. In 1912, the British neurologist S. A. Kinnier Wilson described the main clinical and pathologica...

DIFFERENCE IN STABILITY OF THE N-DOMAIN UNDERLIES DISTINCT INTRACELLULAR PROPERTIES OF THE E1064A AND H1069Q MUTANTS OF CuTRANSPORTING ATPASE ATP7B. Oleg Y. Dmitriev, Ashima Bhattacharjee, Sergiy Nokhrin, Eva-Maria E. Uhlemann, and Svetlana Lutsenko Department of Biochemistry, University of Saskatchewan, Saskatchewan, S7N 5E5, Canada Department of Physiology, Johns Hopkins University, Baltimore...