Early institution of prophylactic therapy of asymptomatic Wilson disease patients can prevent the expression of the disease. Zinc is currently preferred therapy for presymptomatic patients. We report onset of symptomatic disease in a presymptomatic patient and deterioration of biochemical parameters in another, despite appropriate zinc therapy.

background : wilson disease (wd) is an autosomal recessive progressive degeneration of hepatolenticular tissue that causes the increase of copper deposition in the liver and other organs, with resultant hepatic, neurologic and psychological manifestations. wd is fatal if left untreated. the aim of the current study was to evaluate the clinical and para-clinical findings in children with wd in s...

background: wilson disease (wd) is caused by numerous pathogenic mutations of the atp7b gene. there are several mutation screening methods that can be used for the diagnosis and carrier detection of wd, however such methods are costly and time-consuming. therefore, other diagnostic methods should be used for urgent situations such as prenatal diagnosis. objective: to report common polymorphisms...