ABSTRACT

Hong Kong Med J 2006;12:154-8 | Number 2, April 2006
CASE REPORT
Wilson's disease: a patient undiagnosed for 18 years
CM Mak, S Tam, ST Fan, CL Liu, CW Lam
Division of Clinical Biochemistry, University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong
 
 
Wilson’s disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration (
 
Key words: Adenosinetriphosphatase/genetics; Ceruloplasmin; Copper/metabolism; Hepatolenticular degeneration; Liver diseases
 
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