Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Mol Genet Metab. 2020 Feb;129(2):106-110. doi: 10.1016/j.ymgme.2019.10.009. Epub 2019 Nov 5.
To describe an efficient and effective multiplex screening strategy for sulfatide degradation disorders and mucolipidosis type II/III (MLII/III) using 3 mL of urine.
Glycosaminoglycans were analyzed by liquid chromatography-tandem mass spectrometry. Matrix assisted laser desorption/ionization-time of flight tandem mass spectrometry was used to identify free oligosaccharides and identify 22 ceramide trihexosides and 23 sulfatides, which are integrated by 670 calculated ratios. Collaborative Laboratory Integrated Reports (CLIR; https://clir.mayo.edu) was used for post-analytical interpretation of the complex metabolite profile and to aid in the differential diagnosis of abnormal results.
Multiplex analysis was performed on 25 sulfatiduria case samples and compiled with retrospective data from an additional 15 cases revealing unique patterns of biomarkers for each disorder of sulfatide degradation (MLD, MSD, and Saposin B deficiency) and for MLII/III, thus allowing the formulation of a novel algorithm for the biochemical diagnosis of these disorders.
Comprehensive and integrated urine screening could be very effective in the initial workup of patients suspected of having a lysosomal disorder as it covers disorders of sulfatide degradation and narrows down the differential diagnosis in patients with elevated glycosaminoglycans.
描述一种使用 3 毫升尿液进行有效的硫酸脑苷脂降解障碍和黏脂贮积症 II/III（MLII/III）多重筛选策略。
通过液相色谱-串联质谱法分析糖胺聚糖。基质辅助激光解吸/电离-飞行时间串联质谱法用于鉴定游离寡糖，并鉴定 22 种神经酰胺三己糖苷和 23 种硫酸脑苷脂，这些物质通过 670 个计算比值进行整合。协作实验室综合报告（CLIR；https://clir.mayo.edu）用于对复杂代谢物谱进行分析后解释，并帮助对异常结果进行鉴别诊断。
对 25 例硫酸脑苷脂尿症病例进行了多重分析，并结合另外 15 例病例的回顾性数据进行了编译，揭示了每种硫酸脑苷脂降解障碍（MALD、MSD 和 Saposin B 缺乏）和 MLII/III 的独特生物标志物模式，从而为这些疾病的生化诊断制定了新的算法。
综合尿液筛查在疑似溶酶体疾病患者的初步检查中非常有效，因为它涵盖了硫酸脑苷脂降解障碍，并缩小了糖胺聚糖升高患者的鉴别诊断范围。
