RT Journal Article SR Electronic T1 Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring JF Journal of Clinical Pathology JO J Clin Pathol FD BMJ Publishing Group Ltd and Association of Clinical Pathologists SP 807 OP 812 DO 10.1136/jcp.53.11.807 VO 53 IS 11 A1 D Gaffney A1 G S Fell A1 D St J O'Reilly YR 2000 UL http://jcp.bmj.com/content/53/11/807.abstract AB Wilson's disease, the most common inherited disorder of copper metabolism, is a recessive genetic condition. The clinical presentation of Wilson's disease is very variable. It is characterised by low serum copper and caeruloplasmin concentrations coupled with the pathological accumulation of copper in the tissues. However, there are diagnostic difficulties and these are discussed. The current value of DNA diagnosis, both in gene tracking in families or as applied to de novo cases, is examined. Wilson's disease can be treated successfully but treatment must be life long. Patients are best treated by specialist centres with experience and expertise in the condition.