학술논문
Metabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature.
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article
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Source
Metabolomics : Official journal of the Metabolomic Society. 15(3)
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Abstract
IntroductionWilson disease (WD) is characterized by excessive intracellular copper accumulation in liver and brain due to defective copper biliary excretion. With highly varied phenotypes and a lack of biomarkers for the different clinical manifestations, diagnosis and treatment can be difficult.ObjectiveThe aim of the present study was to analyze serum metabolomics profiles of patients with Wilson disease compared to healthy subjects, with the goal of identifying differentially abundant metabolites as potential biomarkers for this condition.MethodsHydrophilic interaction liquid chromatography-quadrupole time of flight mass spectrometry was used to evaluate the untargeted serum metabolome of 61 patients with WD (26 hepatic and 25 neurologic subtypes, 10 preclinical) compared to 15 healthy subjects. We conducted analysis of covariance with potential confounders (body mass index, age, sex) as covariates and partial least-squares analysis.ResultsAfter adjusting for clinical covariates and multiple testing, we identified 99 significantly different metabolites (FDR