Bioanalysis · 2022
Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Kelkel Marcel A, Boutin Michel, Curado Filipa, Bauer Peter, Beauregard-Lacroix Éliane, Mercier François E, Maranda Bruno, Menkovic Iskren, Martineau Tristan, Auray-Blais Christiane
Аннотация
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.