Introducing Single-Nucleotide Polymorphism Markers in the Diagnosis of Wilson Disease

Wilson disease (WD) represents a monogenic disease resulting in copper accumulation within tissues. Incidence is estimated to be approximately 1:30 000. Symptoms include acute and chronic liver disease, hemolysis, and neurodegenerative and psychiatric symptoms (1). The first symptom may be acute liver failure. Death or liver transplantation in WD is common. The European Liver Transplant Registry recorded 706 liver transplantations for WD from 1 January 1988 to 31 December 2005, underlining the relevance of this disease burden. Because symptoms and disease course are variable, diagnosis can be difficult. Effective treatment for WD such as copper chelating drugs and zinc is available, which usually prevents disease progression. Therefore, a simple, rapid and diagnostic test is required for WD, ideally to identify patients before symptoms appear. First symptoms have been reported in patients as young as 2 years of age (2)(3). Thus screening tests for WD at least at the age of 2 years would be appropriate. Penetrance of disease is expected …