ArticlePloS one2013
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 3 of them syntheses that pooled it.
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Who cites it
102 citing papers in PubMed, 3 syntheses or guidelines pooled it, 192 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Accuracy of chitotriosidase activity and CCL18 concentration in assessing type I Gaucher disease severity. A systematic review with meta-analysis of individual participant data.Haematologica · 2021Pooled it
- Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.International journal of molecular sciences · 2020Pooled it
- From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease.International journal of molecular sciences · 2026Review
- Gaucher disease: the hematologist's perspective of a multisystemic disorder.Annals of hematology · 2026Review
- Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.Journal of clinical medicine · 2026Article
- Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.International journal of molecular sciences · 2026Review
- Abnormal Splicing ofBiomedicines · 2025Article
- Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.Molecular genetics and metabolism reports · 2025Article
- Gaucher Disease-Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters.Metabolites · 2025Article
- French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.Orphanet journal of rare diseases · 2025Review
- Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.Journal of clinical medicine · 2025Article
- Gaucher disease, state of the art and perspectives.Journal of internal medicine · 2025Review
- Glucosylsphingosine affects mitochondrial function in a neuronal cell model.Communications biology · 2025Article
- High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results.International journal of molecular sciences · 2025Article
- The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease.Human molecular genetics · 2025Article
- Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies.Journal of inherited metabolic disease · 2025Review
- Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.Orphanet journal of rare diseases · 2025Article
- Obstacles to Early Diagnosis of Gaucher Disease.Therapeutics and clinical risk management · 2025Review
- Developing Allosteric Chaperones forInternational journal of molecular sciences · 2024Article
42 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as well as analysis of chitotriosidase and CCL18/PARC as biomarkers. Even though chitotriosidase is the most well-established biomarker in GD, it is not specific for GD. Furthermore, it may be false negative in a significant percentage of GD patients due to mutation. Additionally, chitotriosidase reflects the changes in the course of the disease belatedly. This further enhances the need for a reliable biomarker, especially for the monitoring of the disease and the impact of potential treatments. METHODOLOGY: Here, we evaluated the sensitivity and specificity of the previously reported biomarker Glucosylsphingosine with regard to different control groups (healthy control vs. GD carriers vs. other LSDs).
findingsOnly GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the specificity of Glucosylsphingosine as a biomarker for GD. In addition, we evaluated the biomarker before and during enzyme replacement therapy (ERT) in 19 patients, demonstrating a decrease in Glucosylsphingosine over time with the most pronounced reduction within the first 6 months of ERT. Furthermore, our data reveals a correlation between the medical consequence of specific mutations and Glucosylsphingosine.
interpretationIn summary, Glucosylsphingosine is a very promising, reliable and specific biomarker for GD.
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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.