Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.
Marcel A KelkelMichel BoutinFilipa CuradoPeter BauerÉliane Beauregard-LacroixFrançois E MercierBruno MarandaIskren MenkovicTristan MartineauChristiane Auray-BlaisPublished in: Bioanalysis (2022)
Background: Sphingolipidoses are caused by a defective sphingolipid catabolism, leading to an accumulation of several glycolipid species in tissues and resulting in neurotoxicity and severe systemic manifestations. Methods & results: Urine samples from controls and patients were purified by solid-phase extraction prior to the analysis by ultra-high-performance liquid chromatography (UPLC) combined with MS/MS. A UPLC-MS/MS method for the analysis of 21 urinary creatinine-normalized biomarkers for eight diseases was developed and validated. Conclusion: Considering the growing demand to identify patients with different sphingolipidoses early and reliably, this methodology will be applied for high-risk screening to target efficiently patients with various sphingolipidoses.
Keyphrases
- simultaneous determination
- ultra high performance liquid chromatography
- tandem mass spectrometry
- solid phase extraction
- high performance liquid chromatography
- liquid chromatography
- liquid chromatography tandem mass spectrometry
- mass spectrometry
- gas chromatography
- ms ms
- high resolution mass spectrometry
- molecularly imprinted
- end stage renal disease
- newly diagnosed
- ejection fraction
- high resolution
- chronic kidney disease
- gas chromatography mass spectrometry
- gene expression
- prognostic factors
- uric acid
- patient reported outcomes