Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.
Biomarkers
/ blood
Brain
/ metabolism
Chromatography, High Pressure Liquid
Gaucher Disease
/ blood
Gene Expression
Glucosylceramidase
/ deficiency
Humans
Liver
/ metabolism
Lysosomes
/ enzymology
Monitoring, Physiologic
/ methods
Psychosine
/ analogs & derivatives
Spleen
/ metabolism
Tandem Mass Spectrometry
Gaucher disease
biomarker
glucosylsphingosine
lyso-Gb1
lysosomal storage disorder
systematic literature review
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
28 Sep 2020
28 Sep 2020
Historique:
received:
11
09
2020
revised:
24
09
2020
accepted:
25
09
2020
entrez:
1
10
2020
pubmed:
2
10
2020
medline:
26
2
2021
Statut:
epublish
Résumé
The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact clinical outcomes. This systematic literature review evaluated the value of glucosylsphingosine (lyso-Gb1), as the most reliable biomarker currently available for the diagnosis, prognosis, and disease/treatment monitoring of patients with GD. Literature searches were conducted using MEDLINE, Embase, PubMed, ScienceOpen, Science.gov, Biological Abstracts, and Sci-Hub to identify original research articles relevant to lyso-Gb1 and GD published before March 2019. Seventy-four articles met the inclusion criteria, encompassing 56 related to pathology and 21 related to clinical biomarkers. Evidence for lyso-Gb1 as a pathogenic mediator of GD was unequivocal, although its precise role requires further elucidation. Lyso-Gb1 was deemed a statistically reliable diagnostic and pharmacodynamic biomarker in GD. Evidence supports lyso-Gb1 as a disease-monitoring biomarker for GD, and some evidence supports lyso-Gb1 as a prognostic biomarker, but 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. Evidentiary standards appropriate for verifying inter-laboratory lyso-Gb1 concentrations in plasma and in other anatomical sites are needed.
Identifiants
pubmed: 32998334
pii: ijms21197159
doi: 10.3390/ijms21197159
pmc: PMC7584006
pii:
doi:
Substances chimiques
Biomarkers
0
Psychosine
2238-90-6
sphingosyl beta-glucoside
52050-17-6
Glucosylceramidase
EC 3.2.1.45
Types de publication
Journal Article
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
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