ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01668186 (Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders), which is not on this map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Integrated metabolome analysis reveals novel connections between maternal fecal metabolome and the neonatal blood metabolome in women with gestational diabetes mellitus.Scientific reports · 2020Trial
- Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficientFrontiers in molecular neuroscience · 2026Article
- Lipidomic Signatures in Pediatric Metabolic Disorders.Metabolites · 2025Review
- Article
- Dried blood spots capture a wide range of metabolic pathways and biological changes associated with exercise.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Metabolomic Profiling Reveals Brain Lipid Alterations inBiomolecules · 2025Article
- Zellweger syndrome; identification of mutations inAnnals of medicine · 2025Article
- Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders.Frontiers in molecular neuroscience · 2025Article
- Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders.PloS one · 2025Article
- An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.Molecular genetics and metabolism · 2024Review
- Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.Molecular genetics and metabolism · 2023Article
- Peroxisome disruption alters lipid metabolism and potentiates antitumor response with MAPK-targeted therapy in melanoma.The Journal of clinical investigation · 2023Article
- The biochemistry and physiology of long-chain dicarboxylic acid metabolism.The Biochemical journal · 2023Review
- Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.Current protocols · 2023Article
- Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data.Metabolites · 2023Article
- BNIP3L/NIX regulates both mitophagy and pexophagy.The EMBO journal · 2022Article
- A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.Translational pediatrics · 2022Review
- Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.Brain : a journal of neurology · 2022Article
- Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.Scientific reports · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
Abstract
purposePeroxisome biogenesis disorders-Zellweger spectrum disorders (PBD-ZSD) are metabolic diseases with multisystem manifestations. Individuals with PBD-ZSD exhibit impaired peroxisomal biochemical functions and have abnormal levels of peroxisomal metabolites, but the broader metabolic impact of peroxisomal dysfunction and the utility of metabolomic methods is unknown.
methodsWe studied 19 individuals with clinically and molecularly characterized PBD-ZSD. We performed both quantitative peroxisomal biochemical diagnostic studies in parallel with untargeted small molecule metabolomic profiling in plasma samples with detection of >650 named compounds.
resultsThe cohort represented intermediate to mild PBD-ZSD subjects with peroxisomal biochemical alterations on targeted analysis. Untargeted metabolomic profiling of these samples revealed elevations in pipecolic acid and long-chain lysophosphatidylcholines, as well as an unanticipated reduction in multiple sphingomyelin species. These sphingomyelin reductions observed were consistent across the PBD-ZSD samples and were rare in a population of >1,000 clinical samples. Interestingly, the pattern or "PBD-ZSD metabolome" was more pronounced in younger subjects suggesting studies earlier in life reveal larger biochemical changes.
conclusionUntargeted metabolomics is effective in detecting mild to intermediate cases of PBD-ZSD. Surprisingly, dramatic reductions in plasma sphingomyelin are a consistent feature of the PBD-ZSD metabolome. The use of metabolomics in PBD-ZSD can provide insight into novel biomarkers of disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.