Clinical molecular diagnosis of Wilson disease.

Abstract excerpt

Wilson disease is an autosomal recessive disorder of copper transport characterized by toxic accumulation of copper in the liver, brain, and other organs. It is lethal if untreated, but effective treatment is available. The broad spectrum of clinical manifestations, including hepatic and neuropsychiatric symptoms, can present over a large age range, contributing to difficulty in recognition of this disease. The...

Topics

• Adenosine Triphosphatases
• Cation Transport Proteins
• Ceruloplasmin
• Copper
• Copper-Transporting ATPases
• Genetic Testing
• Hepatolenticular Degeneration
• Humans
• Mutation
• Sensitivity and Specificity