Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients.
PMID 35118875 | DOI 10.4155/bio-2021-0242 · Bioanalysis · 2022
Aim: Gaucher disease (GD) is caused by a deficiency of the lysosomal enzyme acid β-glucocerebrosidase. Recent metabolomic studies highlighted several new metabolites increased in the plasma of GD patients. We aimed to develop and validate a UPLC-MS/MS method allowing a relative quantitation of lyso-Gb1 and lyso-Gb1 analogs -28, -12, -2, +14, +16 and +18 Da in addition to sphingosylphosphorylcholine, N-palmitoyl-O-phosphocholine to study potential correlations with clinical manifestations. Methodology & results: Following solid-phase extraction, plasma samples were evaporated and resuspended in 100 μl of resuspension solution. Three microliter is injected into the UPLC-MS/MS for analysis. Conclusion: All biomarkers studied were increased in GD patients. Significant correlations were observed between specific analogs and hematological, and visceral complications, as well as overall disease severity.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Gaucher disease | “Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients.” | 0.80 | saudi_context_rules_v1 |