Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.

Int J Mol Sci

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de Recherche-CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.

Published: February 2023

Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired α-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb) and related analogues. Lyso-Gb and related analogues are useful biomarkers for screening and should be routinely monitored for longitudinal patient evaluation. In recent years, a growing interest has emerged in the analysis of FD biomarkers in dried blood spots (DBSs), considering the several advantages compared to venipuncture as a technique for collecting whole-blood specimens. The focus of this study was to devise and validate a UHPLC-MS/MS method for the analysis of lyso-Gb and related analogues in DBSs to facilitate sample collection and shipment to reference laboratories. The assay was devised in conventional DBS collection cards and in CapitainerB blood collection devices using both capillary and venous blood specimens from 12 healthy controls and 20 patients affected with FD. The measured biomarker concentrations were similar in capillary and venous blood specimens. The hematocrit (Hct) did not affect the correlation between plasma and DBS measurements in our cohort (Hct range: 34.3-52.2%). This UHPLC-MS/MS method using DBS would facilitate high-risk screening and the follow-up and monitoring of patients affected with FD.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966246PMC
http://dx.doi.org/10.3390/ijms24043223DOI Listing

Publication Analysis

Top Keywords

lyso-gb analogues
12
dried blood
8
blood spots
8
uhplc-ms/ms method
8
capillary venous
8
venous blood
8
blood specimens
8
blood
5
mass spectrometry
4
spectrometry analysis
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!