ArticleMetabolomics : Official journal of the Metabolomic Society2019
Metabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature.
Article in Metabolomics : Official journal of the Metabolomic Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers.
What it found
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Who cites it
30 citing papers in PubMed, 38 citations in OpenAlex.
- Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease.iScience · 2026Article
- Inactivation of Atp7b Copper Transporter in Intestinal Epithelial Cells Is Associated with Altered Lipid Processing and Cell Growth Machinery Independent from Hepatic Copper Accumulation and Severity of Liver Histology.The American journal of pathology · 2026Article
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Mechanisms of multi-organ damage in Wilson disease from the gut-liver-brain axis perspective: copper metabolism, gut microbiota, and metabolite communication.Frontiers in microbiology · 2026Review
- Identification of age-specific urinary metabolic biomarkers in Wilson disease using machine learning: a comparative study of ensemble tree models.Open medicine (Warsaw, Poland) · 2026Article
- The gut-liver-kidney-brain axis in Wilson disease: copper speciation-flux and barrier-mediated organ crosstalk.Frontiers in immunology · 2026Review
- Discovery of newborn Wilson disease biomarkers via integrated next-generation sequencing and untargeted metabolomics.Orphanet journal of rare diseases · 2025Article
- Biomarker Discovery in Wilson's Disease-A Path Toward Improved Diagnosis and Management: A Comprehensive Review.Molecular neurobiology · 2025Review
- Copper and hepatic lipid dysregulation: Mechanisms and implications.World journal of hepatology · 2025Review
- Changes in the FXR-cistrome and alterations in bile acid physiology in Wilson disease.Hepatology communications · 2025Article
- Comparative review of copper-associated chronic hepatitis in dogs and Wilson disease in humans.Frontiers in veterinary science · 2025Review
- Dyslipidemia patterns and associated factors in Wilson's disease patients: a clinical analysis.Frontiers in neurology · 2024Article
- An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.Molecular genetics and metabolism · 2024Review
- Therapeutic implications of impaired nuclear receptor function and dysregulated metabolism in Wilson's disease.Pharmacology & therapeutics · 2023Review
- Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.Metabolites · 2023Article
- A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.Translational pediatrics · 2022Review
- Metabolic signatures of hepatolithiasis using ultra-high performance liquid chromatography-tandem mass spectrometry.Metabolomics : Official journal of the Metabolomic Society · 2022Article
- Wilson Disease: Update on Pathophysiology and Treatment.Frontiers in cell and developmental biology · 2022Review
- Diverse roles of microbial indole compounds in eukaryotic systems.Biological reviews of the Cambridge Philosophical Society · 2021Review
- Reproducibility of mass spectrometry based metabolomics data.BMC bioinformatics · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
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 < 0.05) between WD and healthy subjects. Subtype comparisons also revealed significantly different metabolites compared to healthy subjects: WD hepatic subtype (67), WD neurologic subtype (57), WD hepatic-neurologic combined (77), and preclinical (36). Pathway analysis revealed these metabolites are involved in amino acid metabolism, the tricarboxylic acid cycle, choline metabolism, and oxidative stress.
conclusionsPatients with WD are characterized by a distinct metabolomics profile providing new insights into WD pathogenesis and identifying new potential diagnostic biomarkers.
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Registered trials
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