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Review
. 2023 Feb 13;18(1):27.
doi: 10.1186/s13023-023-02623-7.

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review

Gaetano Giuffrida #  1 , Uros Markovic #  2   3   4 , Annalisa Condorelli  2   5 , Valeria Calafiore  2 , Daniela Nicolosi  2 , Marianna Calagna  2   5 , Stephanie Grasso  2 , Marco Tindaro Valentino Ragusa  2 , Jennifer Gentile  6 , Mariasanta Napolitano  7
Affiliations
Review

Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review

Gaetano Giuffrida et al. Orphanet J Rare Dis. .

Abstract

Background: Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and confirmed by identifying characteristic mutations in the GBA1 gene. Currently, several biomarkers are available for disease monitoring. Chitotriosidase has been used over the last 20 years to assess the severity of GD, but lacks specificity in GD patients. Conversely, the deacylated form of glucosylceramide, glucosylsphingosine (also known as lyso-Gb1), represents a more reliable biomarker characterized by its high sensitivity and specificity in GD.

Main text: Herein, we review the current literature on lyso-Gb1 and describe evidence supporting its usefulness as a biomarker for diagnosing and evaluating disease severity in GD and monitoring treatment efficacy.

Conclusion: Lyso-Gb1 is the most promising biomarker of GD, as demonstrated by its reliability in reflecting disease burden and monitoring treatment response. Furthermore, lyso-Gb1 may play an important role in the onset of monoclonal gammopathy of uncertain significance, multiple myeloma, and Parkinson's disease in GD patients.

Keywords: Biomarker; Gaucher disease; Glucosylsphingosine; Lyso-Gb1.

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Conflict of interest statement

GG has received consultancy fees from Sanofi Genzyme, UM has received consultancy fees from Sanofi Genzyme and Amgen, MN acted as consultant for Bayer, CSL Behring, Kedrion, Novonordisk and Amgen and received speaker fees from Kedrion, Pfizer, CSLBehring CSL Behring, Novonordisk, Bayer Sobi, and Takeda. JG is an employee of Sanofi Genzyme. Other authors declare they have no competing interests.

References

    1. Morales LE. Gaucher's disease: a review. Ann Pharmacother. 1996;30(4):381–388. doi: 10.1177/106002809603000411. - DOI - PubMed
    1. Burlina AB, Polo G, Rubert L, Gueraldi D, Cazzorla C, Duro G, et al. Implementation of second-tier tests in newborn screening for lysosomal disorders in North Eastern Italy. Int J Neonatal Screen. 2019;5(2):24. doi: 10.3390/ijns5020024. - DOI - PMC - PubMed
    1. Schiffmann R, Sevigny J, Rolfs A, Davies EH, Goker-Alpan O, Abdelwahab M, et al. The definition of neuronopathic Gaucher disease. J Inherit Metab Dis. 2020;43(5):1056–1059. doi: 10.1002/jimd.12235. - DOI - PMC - PubMed
    1. Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr. 2003;143(2):273–276. doi: 10.1067/S0022-3476(03)00302-0. - DOI - PubMed
    1. Lee RE. The pathology of Gaucher disease. Prog Clin Biol Res. 1982;95:177–217. - PubMed

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