ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 66 citations in OpenAlex.
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
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- Metabolomic Profiling Reveals Brain Lipid Alterations inBiomolecules · 2025Article
- Plasma Metabolite Profiles of Children with Autism Spectrum Disorder.Metabolites · 2025Article
- SMART 2.0 Statistical Metabolomics Analysis: An R Tool 2.0.Analytical chemistry · 2025Article
- Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.Molecular genetics and metabolism reports · 2025Article
- Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.npj metabolic health and disease · 2025Article
- Biochemistry, pharmacology, and in vivo function of arginases.Pharmacological reviews · 2025Review
- Analysis of metabolites associated with ADIPOQ genotypes in individuals with type 2 diabetes mellitus.Scientific reports · 2024Article
- The salivary metabolome of children and parental caregivers in a large-scale family environment study.npj metabolic health and disease · 2024Article
- The expanding diagnostic toolbox for rare genetic diseases.Nature reviews. Genetics · 2024Review
- An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.Molecular genetics and metabolism · 2024Review
- Metabolomic profiling reveals key metabolites associated with hypertension progression.Frontiers in cardiovascular medicine · 2024Article
- Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.Metabolites · 2023Article
- Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations.Orphanet journal of rare diseases · 2023Article
- Validation of a targeted metabolomics panel for improved second-tier newborn screening.Journal of inherited metabolic disease · 2023Article
- Article
- A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.Translational pediatrics · 2022Review
- A review of mass spectrometry-based analyses to understand COVID-19 convalescent plasma mechanisms of action.Proteomics · 2022Review
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 3 countries.
Funding
Abstract
purposeUntargeted metabolomic analysis is increasingly being used in the screening and management of individuals with inborn errors of metabolism (IEM). We aimed to test whether untargeted metabolomic analysis in plasma might be useful for monitoring the disease course and management of urea cycle disorders (UCDs).
methodsUntargeted mass spectrometry-based metabolomic analysis was used to generate z-scores for more than 900 metabolites in plasma from 48 individuals with various UCDs. Pathway analysis was used to identify common pathways that were perturbed in each UCD.
resultsOur metabolomic analysis in plasma identified multiple potentially neurotoxic metabolites of arginine in arginase deficiency and, thus, may have utility in monitoring the efficacy of treatment in arginase deficiency. In addition, we were also able to detect multiple biochemical perturbations in all UCDs that likely reflect clinical management, including metabolite alterations secondary to dietary and medication management.
conclusionIn addition to utility in screening for IEM, our results suggest that untargeted metabolomic analysis in plasma may be beneficial for monitoring efficacy of clinical management and off-target effects of medications in UCDs and potentially other IEM.
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