Lysosphingolipid urine screening test using mass spectrometry for the early detection of lysosomal storage disorders

被引：2
作者：
Kelkel, Marcel A. [1 ]
Boutin, Michel [1 ]
Curado, Filipa [2 ]
Bauer, Peter [2 ]
Beauregard-Lacroix, Eliane [3 ]
Mercier, Francois E. [4 ,5 ]
Maranda, Bruno [1 ]
Menkovic, Iskren [1 ]
Martineau, Tristan [1 ]
Auray-Blais, Christiane [1 ]
机构：
[1] Univ Sherbrooke, Fac Med & Hlth Sci, Ctr Rech CHUS, Dept Pediat,Div Med Genet,CIUSSS Estrie CHUS, 3001,12th Ave North, Sherbrooke, PQ J1H 5N4, Canada
[2] Centogene GmbH, Dept Clin Studies, D-18055 Rostock, Germany
[3] Univ Montreal, Dept Pediat, Ctr Hosp Univ St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
[4] McGill Univ, Jewish Gen Hosp, Fac Med, Lady Davis Inst Med Res,Dept Med,Div Expt Med, 3755 Cote St Catherine, Montreal, PQ H3T 1E2, Canada
[5] McGill Univ, Jewish Gen Hosp, Fac Med, Lady Davis Inst Med Res,Dept Med,Div Hematol, 3755 Cote St Catherine, Montreal, PQ H3T 1E2, Canada
来源：
BIOANALYSIS | 2022年 / 14卷 / 05期
关键词：
analog; biomarker; creatinine; lysosomal storage diseases; lysosphingolipid; screening; sphingolipidosis; tandem mass spectrometry; ultra-high-performance liquid chromatography; urine; ENZYME REPLACEMENT THERAPY; FABRY-DISEASE; MULTIPLEX ANALYSIS; DRIED BLOOD; BIOMARKERS; TISSUES; PLASMA; GLOBOTRIAOSYLSPHINGOSINE; SPHINGOLIPIDOSES; MANIFESTATIONS;
D O I：
10.4155/bio-2021-0259
中图分类号：
Q5 [生物化学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：289 / 306
页数：18
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