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1Chemical Pathology, Cork University Hospital, Cork, Ireland, Cork University Hospital Biochemistry Laboratory, Cork, Ireland aidan.ryan1@hse.ie.
2Pathology, School of Medicine, University College Cork College of Medicine and Health, Cork, Ireland.
3Clinical Chemistry, St Vincent's University Hospital, Dublin, Ireland.
4University College Dublin School of Medicine and Medical Science, Dublin, Ireland.
5Laboratory Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Abstract
Wilson's disease is an autosomal recessive disorder arising from pathogenic variants in the Atp7b gene on chromosome 13. The defective translated ATPase copper (Cu) transport protein produced leads to Cu accumulation, initially affecting the liver but eventually affecting other cells. It is just over 20 years since the last Best Practice on this topic in this journal. This review is an update on this, covering new disease biomarkers, pathogenesis, assumptions around clinical features and developments in therapy.
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