Molecular diagnosis for presymptomatic patients with Wilson disease

Abstract

Wilson disease is a genetic disorder of copper metabolism characterized by hepatic and/or neurological manifestations. This disease is caused by mutations in the gene of copper transporting ATPase (ATP7B). Early diagnosis is very important to improve the prognosis of this disease. However, biochemical studies are not sufficiently effective for the definitive diagnosis of young patients. This study presents the molecular diagnosis of presymptomatic patients with Wilson disease. Three patients, two infants and one young child without any symptoms, and one carrier, were diagnosed by ATP7B gene analysis. We conclude that the molecular diagnosis of Wilson disease is very useful for the identification of young patients and familial analysis.