Wilson disease
Wilson disease is an autosomal-recessive disorder of copper metabolism (caused by mutations in the ATP7B gene) in which copper accumulates in the liver, brain, and other organs. Untreated, it leads to liver disease and neurological impairment; with early diagnosis and copper-lowering therapy (chelators, zinc), outcomes are good — so accurate, early diagnosis matters.
Diagnosis
Diagnosis combines clinical signs, ceruloplasmin, 24-hour urinary copper, the Leipzig score, and — increasingly — relative exchangeable copper (REC). The 2025 EASL-ERN Clinical Practice Guidelines on Wilson’s disease recommend REC determination for diagnosis where available. REC is a highly specific and sensitive measure of the labile, albumin-bound copper pool.
Connection to albuminomics
Wilson disease is where the albuminomics programme started: measuring how copper binds to albumin by ICP-MS. The same functional-binding principle was later generalised — beyond copper and beyond Wilson disease — into the SEB test for liver injury.