Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review

Int J Mol Sci. 2020 Sep 28;21(19):7159. doi: 10.3390/ijms21197159.

PMID: 32998334

Shoshana Revel-Vilk, Maria Fuller, and Ari Zimran

Summary: The importance of glucosylsphingosine (lyso-Gb1) was assessed in this systematic literature review, as a biomarker for the diagnosis, prognosis, and disease / treatment monitoring of patients with GD. Lyso-Gb1 was found to be a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Although some evidence supports lyso-Gb1 as a disease-monitoring and prognostic biomarker, further study is required.

Abstract

Objectives: The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), can have a negative effect on clinical outcomes. The importance of glucosylsphingosine (lyso-Gb1) was assessed in this systematic literature review, as the most accurate biomarker currently available for the diagnosis, prognosis, and disease/treatment monitoring of patients with GD.

Methods: Literature searches were conducted published before March 2019 to identify original research articles relevant to lyso-Gb1 and GD. 74 articles which met the study eligibility criteria were included in the review.

Conclusion: The evidence for lyso-Gb1 as a pathogenic mediator of GD was well-defined, although its precise function still needs to be clarified. Lyso-Gb1 was found to be a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Although some evidence supports lyso-Gb1 as a disease-monitoring and prognostic biomarker for GD, further study is required. Lyso-Gb1 meets the criteria for a biomarker as it is easily accessible and reliably quantifiable in plasma and dried blood spots, enables the elucidation of GD molecular pathogenesis, is diagnostically valuable, and reflects therapeutic responses. Lyso-Gb1 concentration measurement in plasma and other anatomical regions need appropriate inter-laboratory standardization. Keywords: Gaucher disease, lyso-Gb1, glucosylsphingosine, biomarker, systematic literature review, lysosomal storage disorder