ArticleClinica chimica acta; international journal of clinical chemistry2015
Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.
Article in Clinica chimica acta; international journal of clinical chemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.Genetics in medicine open · 2026Article
- UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.Biomolecules · 2024Article
- Prospective characterization of early symptom onset and progression in young pediatric patients with variants in theGenetics in medicine open · 2024Article
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- Late-onset and classic phenotypes of Fabry disease in males with theOpen heart · 2023Article
- Review
- Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.Current issues in molecular biology · 2021Article
- Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.Journal of clinical medicine · 2021Review
- Narrative review on Morbus Fabry: diagnosis and management of cardiac manifestations.Cardiovascular diagnosis and therapy · 2021Review
- Biomarkers in Anderson-Fabry Disease.International journal of molecular sciences · 2020Review
- Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.The application of clinical genetics · 2019Review
- Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.Journal of the American Society of Nephrology : JASN · 2017Article
- Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry.Bioanalysis · 2016Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
Abstract
Recent data have shown that lyso-Gb3, the deacylated derivative of globotriaosylceramide (Gb3), is possibly involved in the pathogenesis of Fabry disease (FD) and might be a clinically useful biomarker of its metabolic load. To test this hypothesis, we assayed Gb3 and lyso-Gb3 and related analogs in plasma and/or urine samples of 12 clinically well-characterized subjects carrying several different GLA variant alleles associated with a wide range of residual α-galactosidase A activities. Urinary Gb3 was measured by HPLC-MS/MS; plasma and urinary lyso-Gb3 and related analogs were measured by UPLC-MS/MS. Individual profiles of Gb3 and lyso-Gb3 and related analogs closely correlated with the phenotypic data for each subject, discerning the classical FD patient from the two patients carrying cardiac variants as well as those from all the others without FD. The lyso-Gb3 analog at m/z 836 was found at increased levels only in patients manifesting clinically severe heart disease, irrespective of the pathogenicity of the GLA variant they carried. This finding suggests that this lyso-Gb3 analog might be an earlier biomarker of progressive heart disease, non-specific of the FD cardiomyopathy. The possibility that urinary Gb3 is a specific marker of kidney involvement in FD deserves further study.
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