2017
DOI: 10.1177/2326409817692360
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Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots

Abstract: Background: Interest in screening methods for lysosomal storage diseases (LSDs) has increased in recent years, since early diagnosis and treatment are essential to prevent or attenuate the onset of symptoms and the complications of these diseases. In the current work, we evaluated the performance of tandem mass spectrometry (MS/MS) for the detection of some LSDs, aiming the future use of this methodology for the screening of these disorders. Methods: Standard curves and quality control dried blood spots were a… Show more

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Cited by 5 publications
(5 citation statements)
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“…Most interestingly, the human α-GAL activity assays can effectively be used to measure zebrafish enzyme activity and we could therefore demonstrate that it is present in zebrafish as early as in 2 dpf embryo, 4 dpf larva, 30 dpf juvenile and adult fish tissues 90 + dpf ( Fig. 2 B), and fluctuates similarly to humans [56] . We have noticed that enzyme activity in general is higher in adult wildtype female compared to adult male zebrafish, in agree with what have been described previously in Fabry mice [57] as well as in human [58] .…”
Section: Discussionmentioning
confidence: 68%
“…Most interestingly, the human α-GAL activity assays can effectively be used to measure zebrafish enzyme activity and we could therefore demonstrate that it is present in zebrafish as early as in 2 dpf embryo, 4 dpf larva, 30 dpf juvenile and adult fish tissues 90 + dpf ( Fig. 2 B), and fluctuates similarly to humans [56] . We have noticed that enzyme activity in general is higher in adult wildtype female compared to adult male zebrafish, in agree with what have been described previously in Fabry mice [57] as well as in human [58] .…”
Section: Discussionmentioning
confidence: 68%
“…They measured the enzymatic activity of GALC by quantitatively analyzing the enzymatic product using an internal standard with nearly identical ESI‐MS/MS ionization efficiencies (Li, Brockmann, et al, 2004). Several “multiplex” MS/MS assays for common LSD enzymes (Cho et al, 2016; Elliott et al, 2016; Supriya et al, 2020) were later developed using enzyme‐specific artificial substrate, as well as additional internal standards to quantify the reaction product by selected reaction monitoring (SRM) in tandem MS; 5‐plex LSD's (Li, Scott, et al, 2004), 6‐plex LSD's (Ribas et al, 2017), 8‐plex LSD's (Chien et al, 2020) and the most recent 18‐plex LSD's screening (Hong et al, 2020). The challenges of applying tandem MS/MS procedures for the detection of LSDs were related to (i) the availability of synthetic enzymatic substrates, which were initially taken from those used in fluorimetry; (ii) the need to remove contaminants and reduce the complexity of the blood sample before injection into the mass spectrometer by using conventional solid and/or liquid‐phase chromatography or ultra‐performance liquid chromatography (UPLC); and (iii) Developing screening algorithms to determine specific enzymatic cut‐off values that serve as criteria for determining whether to proceed with second‐tier measurements or to refer the patient for alternative diagnostic evaluations, such as genetic testing and/or comprehensive pediatric physical examinations immediately (Burlina et al, 2019; Kemper et al, 2017).…”
Section: Multiplex–tandem Mass Spectrometry (Ms/ms) For Lsd'smentioning
confidence: 99%
“…This approach was then extended for dried blood spot (DBS) samples, and new substrates (S) and internal standards (IS) for Gaucher, Fabry (Auray‐Blais et al, 2015), Pompe (Liao et al, 2017), and Niemann–Pick disorders, as well as Mucopolysaccharidosis type I, were established. Since then, pilot studies in North America and Europe have been conducted for several LSD screenings employing MS/MS approaches and DBS samples (Ribas et al, 2017; Supriya et al, 2020) using the general protocol shown below (Figure 1). The screening procedure became feasible due to the advancement of multiplexing, which, in the context of MS refers to the simultaneous analysis of multiple analytes within a single experiment.…”
Section: Introductionmentioning
confidence: 99%
“…Some LSDs were detected by measuring of activities of their corresponding enzymes (galactocerebroside-βgalactosidase for the analysis of Krabbe disease; α-galactosidase A for the analysis of Fabry disease) in dried blood spots using tandem mass spectrometry (MS/MS) [10]. MS/MS analysis of dried blood spots is also useful for enzymatic-based newborn screening of every MPS type except MPS IX [11][12][13]. MS analysis in combination with liquid chromatography (LC-MS) was used for GAG detection in urine and blood samples [14][15][16].…”
Section: Introductionmentioning
confidence: 99%