Abstract:
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 has been observed. Diagnosis of
the condition is made primarily on the basis of clinical
findings, presence of the Kayser–Fleischer ring, and
biochemical and radiological parameters. The young
patient’s usual presentation is through liver involvement.
Uncommonly the young group can present with