Wilson's disease

Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:

Aetiology

Wilson's disease is caused by loss of function variants in ATP7B. ATP7B plays essential rolls in copper metabolism. It is required for the secretion of copper into the bile which allows excretion in faeces. It is also involved in attaching copper to its carrier protein - caeruloplasmin.

Associated genes

Gene
ATP7B Search ClinVar Search ClinGen


Clinical features


Wilson's disease may cause the following:




Investigations


The classic profile on copper studies might appear somewhat counterintuitive - as serum copper is most commonly low or normal. This is because caeruloplasmin is low. Urinary copper excretion is elevated because of the relatively higher proportion of free copper in the blood. Copper deposition is high in the tissues though.


Laboratory Investigation Result