Gucciardi Antonina, Legnini Elisa, Di Gangi Iole Maria, Corbetta Carlo, Tomanin Rosella, Scarpa Maurizio, Giordano Giuseppe
Mass Spectrometry Laboratory, Department of Women's and Children's Health, University of Padova, Italy.
Biomed Chromatogr. 2014 Aug;28(8):1131-9. doi: 10.1002/bmc.3133. Epub 2014 Jan 22.
Lysosomal storage disorders comprise a group of rare genetic diseases in which a deficit of specific hydrolases leads to the storage of undegraded substrates in lysosomes. Impaired enzyme activities can be assessed by MS/MS quantification of the reaction products obtained after incubation with specific substrates. In this study, a column-switching HPLC-MS/MS method for multiplex screening in dried blood spot of the lysosomal enzymes activities was developed. Mucopolysaccharidosis type I, Fabry, Gaucher, Krabbe, Niemann-Pick A/B and Pompe diseases were simultaneously assayed. Dried blood spots were incubated with substrates and internal standards; thereafter, supernatants were collected with minor manipulations. Samples were injected, trapped into an online perfusion column and, by a six-port valve, switched online through the C18 analytical column to perform separation of metabolites followed by MS/MS analysis. A total of 1136 de-identified newborn screening samples were analyzed to determine references for enzymes activity values. As positive controls, we analyzed dried blood spots from three patients with Pompe, one with Fabry, one with Krabbe disease and two with MPS I, and in all cases the enzyme activities were below the cutoff values measured for newborns, except for an MPS I patient after successful hematopoietic stem cell transplantation.
溶酶体贮积症是一组罕见的遗传性疾病,其中特定水解酶的缺乏导致未降解底物在溶酶体中蓄积。酶活性受损可通过与特定底物孵育后获得的反应产物的质谱/质谱定量来评估。在本研究中,开发了一种用于溶酶体酶活性干血斑多重筛查的柱切换高效液相色谱-质谱/质谱方法。同时检测了I型黏多糖贮积症、法布里病、高雪氏病、克拉伯病、尼曼-匹克A/B病和庞贝病。将干血斑与底物和内标孵育;此后,经过少量操作收集上清液。进样后,样品被捕集到在线灌注柱中,并通过六通阀在线切换到C18分析柱,以分离代谢物,随后进行质谱/质谱分析。共分析了1136份身份不明的新生儿筛查样本,以确定酶活性值的参考范围。作为阳性对照,我们分析了三名庞贝病患者、一名法布里病患者、一名克拉伯病患者和两名I型黏多糖贮积症患者的干血斑,除一名成功进行造血干细胞移植后的I型黏多糖贮积症患者外,所有病例的酶活性均低于新生儿测定的临界值。