ArticleJournal of the American Society for Mass Spectrometry2015
Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers.
Article in Journal of the American Society for Mass Spectrometry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 49 citations in OpenAlex.
- Listening to Cellular Whispers through Glycosphingolipids: A Comprehensive Review of Recent Advancements in Glycosphingolipid Analysis and Annotation.Analytical chemistry · 2026Review
- Systematic metabolomics study in the serum and urine of a mouse model of Fabry disease.Kidney research and clinical practice · 2025Article
- Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development.Frontiers in pharmacology · 2025Review
- Evaluation of a Liquid Chromatography-Tandem Mass Spectrometry Method for the Analysis of Glucosylceramide and Galactosylceramide Isoforms in Cerebrospinal Fluid of Parkinson's Disease Patients.Analytical chemistry · 2024Article
- An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.Molecular genetics and metabolism · 2024Review
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.International journal of molecular sciences · 2023Article
- Review
- LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease.Journal of mass spectrometry and advances in the clinical lab · 2021Article
- Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.International journal of molecular sciences · 2021Review
- Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.Journal of clinical medicine · 2021Review
- The rapidly evolving view of lysosomal storage diseases.EMBO molecular medicine · 2021Review
- Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.International journal of molecular sciences · 2020Article
- Review
- Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.International journal of molecular sciences · 2020Article
- Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives.International journal of molecular sciences · 2020Review
- Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment.Diagnostics (Basel, Switzerland) · 2020Article
- Hot topics in Fabry disease.Postgraduate medical journal · 2018Review
- Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism.Annals of translational medicine · 2018Review
- Structural Analysis of Unsaturated Glycosphingolipids Using Shotgun Ozone-Induced Dissociation Mass Spectrometry.Journal of the American Society for Mass Spectrometry · 2017Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Fabry disease is an X-linked, complex, multisystemic lysosomal storage disorder presenting marked phenotypic and genotypic variability among affected male and female patients. Glycosphingolipids, mainly globotriaosylceramide (Gb(3)) isoforms/analogs, globotriaosylsphingosine (lyso-Gb(3)) and analogs, as well as galabiosylceramide (Ga(2)) isoforms/analogs accumulate in the vascular endothelium, nerves, cardiomyocytes, renal glomerular and tubular epithelial cells, and biological fluids. The search for biomarkers reflecting disease severity and progression is still on-going. A metabolomic study using quadrupole time-of-flight mass spectrometry has revealed 22 galabiosylceramide isoforms/analogs in urine of untreated Fabry patients classified in seven groups according to their chemical structure: (1) Saturated fatty acid; (2) one extra double bond; (3) two extra double bonds; (4) hydroxylated saturated fatty acid; (5) hydroxylated fatty acid and one extra double bond; (6) hydrated sphingosine and hydroxylated fatty acid; (7) methylated amide linkage. Relative quantification of both Ga(2) and Gb(3) isoforms/analogs was performed. All these biomarkers are significantly more abundant in urine samples from untreated Fabry males compared with healthy male controls. A significant amount of Ga(2) isoforms/analogs, accounting for 18% of all glycosphingolipids analyzed (Ga(2) + Gb(3) and respective isoforms/analogs), were present in urine of Fabry patients. Gb(3) isoforms containing saturated fatty acids are the most abundant (60.9%) compared with 26.3% for Ga(2). A comparison between Ga(2) isoforms/analogs and their Gb(3) counterparts also showed that the proportion of analogs with hydroxylated fatty acids is significantly greater for Ga(2) (35.8%) compared with Gb(3) (1.9%). These results suggest different biological pathways involved in the synthesis and/or degradation of Gb(3) and Ga(2) metabolites.
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