UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.

ABSTRACT:

Background

Early detection of sphingolipidoses is crucial to prevent irreversible complications and improve patient outcomes. The use of urine samples dried on filter paper (DUS) is a non-invasive strategy that simplifies the collection, storage, and shipping of samples compared to using liquid urine specimens.

Objectives

(1) Develop and validate a multiplex ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) methodology using DUS to quantify twenty-one lysosphingolipids normalized to creatinine for eight different sphingolipidoses. (2) Establish normal reference values to evaluate the clinical utility of the methodology.

Methods

Samples were eluted from a 5 cm filter paper disk (~1 mL of urine) and extracted on Oasis MCX solid-phase extracti

SUBMITTER: Martineau T 

PROVIDER: S-EPMC11727146 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature