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Key Points Wilson's disease is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B Epidemiologic clustering of mutations to the ATP7B gene based on ethnicity have been observed Diagnosis of the condition is made primarily on the basis of clinical findings, presence of the KayserFleischer ring, and biochemical parameters A new scoring system for diagnosis of the condition was proposed at the 8th International Conference on Wilson Disease and Menkes Disease, 2001 Treatment involves the use of a chelating agent, the most commonly used being D-penicillamine, and both symptomatic and presymptomatic affected individuals can be treated Liver transplantation can be used for complete reversal of the metabolic abnormality Early detection of presymptomatic individuals in affected families can be achieved by polymerase-chain-reaction-based linkage analysis using microsatellite markers This is a preview of subscription content, access via your institution Access options Subscribe to this journal Receive 12 print issues and online access 189,00 per year only 15,75 per issue Buy this article Purchase on SpringerLink Instant access to the full article PDF

Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options