Role of genotyping in Wilson’s disease

The molecular characterization of hereditary diseases has given rise to major advancements in the understanding of pathophysiology in human disease. Among these inborn defects of metabolism, Wilson’s disease (WD) serves as an excellent model to study processes such as copper metabolism, oxidative stress, neurodegeneration, psychiatric disease, acute and chronic liver failure, as well as hepatocarcinogenesis. WD results from a hepatic copper transporter defect, which is responsible for translocating copper into the bile [1,2].