Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry.

ABSTRACT: Gaucher disease is a rare inherited disorder caused by a deficiency of the lysosomal acid beta-glucocerebrosidase enzyme. Metabolomic studies by our group targeted several new potential urinary biomarkers. Apart from lyso-Gb₁, these studies highlighted lyso-Gb₁ analogs -28, -26, -12 (A/B), +2, +14, +16 (A/B), +30, and +32 Da, and polycyclic lyso-Gb₁ analogs 362, 366, 390, and 394 Da. The main objective of the current study was to develop and validate a robust UPLC-MS/MS method to study the urine distribution of these biomarkers in patients.

Method

Urine samples were purified using solid-phase extraction. A 12 min UPLC-MS/MS method was developed.

Results

Validation assays revealed high precision and accuracy for creatinine and lyso-Gb₁

SUBMITTER: Menkovic I 

PROVIDER: S-EPMC9221757 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature