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  • Title: Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.
    Author: Kelkel MA, Boutin M, Curado F, Bauer P, Beauregard-Lacroix É, Mercier FE, Maranda B, Menkovic I, Martineau T, Auray-Blais C.
    Journal: Bioanalysis; 2022 Mar; 14(5):289-306. PubMed ID: 35118880.
    Abstract:
    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.
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