Quantitation of a Plasma Biomarker Profile for the Early Detection of Gaucher Disease Type 1 Patients

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-Gb and lyso-Gb analogs -28, -12, -2, +14, +16 and +18 Da in addition to sphingosylphosphorylcholine, -palmitoyl--phosphocholine to study potential correlations with clinical manifestations. 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. 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.