ArticleMetabolomics : Official journal of the Metabolomic Society2023
Combined targeted and untargeted high-resolution mass spectrometry analyses to investigate metabolic alterations in pompe disease.
Article in Metabolomics : Official journal of the Metabolomic Society, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Review
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Metabolomic profiling reveals novel biomarkers and therapeutic targets in Legg-Calvé-Perthes disease: a comprehensive analysis of peripheral blood and endothelial function.Frontiers in physiology · 2025Article
- Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.Frontiers in molecular biosciences · 2025Article
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPompe disease is a rare, lysosomal disorder, characterized by intra-lysosomal glycogen accumulation due to an impaired function of α-glucosidase enzyme. The laboratory testing for Pompe is usually performed by enzyme activity, genetic test, or urine glucose tetrasaccharide (Glc4) screening by HPLC. Despite being a good preliminary marker, the Glc4 is not specific for Pompe.
objectiveThe purpose of the present study was to develop a simple methodology using liquid chromatography-high resolution mass spectrometry (LC-HRMS) for targeted quantitative analysis of Glc
methodsWe collected 21 urine specimens from 13 Pompe disease patients and compared their metabolic signatures with 21 control specimens.
resultsMultivariate statistical analyses on the untargeted profiling data revealed Glc
conclusionThis study has demonstrated the potential of combined acquisition methods in LC-HRMS for Pompe disease investigation, allowing for routine determination of an established biomarker and discovery of complementary candidate biomarkers that may increase diagnostic accuracy, or improve the risk stratification of patients with disparate clinical phenotypes.
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Registered trials
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