Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.

ABSTRACT:

Background & aims

Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in various organs, primarily the liver and brain. Standard assessment of copper metabolism includes total serum copper, serum ceruloplasmin, and urinary copper excretion. Quantitative measurement of non-ceruloplasmin-bound copper, known as exchangeable copper (CuEXC), was developed in 2009. Subsequently in 2011, relative exchangeable copper (REC), defined as the ratio of CuEXC to total serum copper, was proposed as a diagnostic biomarker. This study aimed to validate the REC cut-off for the diagnosis of WD in a large cohort and to refine the reference ranges for CuEXC.

Methods

Data were collected from 778 individuals at the French National Reference Centre for WD fro

SUBMITTER: Djebrani-Oussedik N 

PROVIDER: S-EPMC12446559 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature