2016
DOI: 10.1016/j.ymgmr.2016.08.007
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Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry

Abstract: Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of glycolipids, oligosaccharides, mucopolysaccharides, sphingolipids, and other biological substances. Accumulating evidence has suggested that early detection of individuals with LSDs, followed by the immediate initiation of appropriate therapy during the presymptomatic period, usually results in better therapeutic outcomes. The activities of individual enzymes are measured using fluore… Show more

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Cited by 9 publications
(13 citation statements)
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“…The analytical range is a measure defined as the ratio of enzyme activity of healthy controls to that of blank [9]. This analytical range is closely associated with the lowest limit of enzyme activity quantification [8], [9], [10]. The analytical ranges for the MS/MS-based method are normally 3- to 10-fold higher than those of fluorometric assay, suggesting that the disease-affected population can be directly identified by enzyme activity using a DBS, rather than a leukocyte concentrate.…”
Section: Introductionmentioning
confidence: 99%
“…The analytical range is a measure defined as the ratio of enzyme activity of healthy controls to that of blank [9]. This analytical range is closely associated with the lowest limit of enzyme activity quantification [8], [9], [10]. The analytical ranges for the MS/MS-based method are normally 3- to 10-fold higher than those of fluorometric assay, suggesting that the disease-affected population can be directly identified by enzyme activity using a DBS, rather than a leukocyte concentrate.…”
Section: Introductionmentioning
confidence: 99%
“…A limitation of the flow injection approach is that sulfatase substrates undergo non-enzymatic cleavage to desulfated products in the heated ESI source of the mass spectrometer that interfere with the activity measurements. In parallel efforts, liquid chromatography in combination with MS/MS (HPLC-MS/MS) has been evaluated as an alternative method of enzyme activity analysis in DBS (20-25). HPLC leads to separation of substrates from products prior to MS/MS, thus in-source cleavage is of no concern.…”
mentioning
confidence: 99%
“…HPLC requires fast analyte elution to be applicable in newborn screening. Previous HPLC-MS/MS methods for LSDs require only ∼2 min inject-to-inject times (20-25) and are thus appropriate for newborn screening.…”
mentioning
confidence: 99%
“…The assay cocktail contained the known concentrations of substrate for the GAA for Pompe disease (0.35 mM), the GLA for Fabry disease (1.2 mM), the IDUA for MPS I (0.25 mM), the ABG for Gaucher disease (0.5 mM), the ASM for Niemann-Pick disease type A/B (0.75 mM), and the GALC for Krabbe disease (0.85 mM) and of IS for the GAA (24 μM), GLA (24 μM), IDUA (15 μM), ABG (20 μM), ASM (15 μM), and GALC (10 μM) [ 20 , 21 ]. All of the assays were carried out with a 3-mm punch in 30 μL of assay cocktail in a polypropylene 96-well plate (#260252, Thermo Fisher Scientific, Tokyo) and incubated at 37 °C for 20 h. To terminate this enzyme reaction, a mixture of methanol/ethyl acetate (50/50, 100 μL) was added.…”
Section: Methodsmentioning
confidence: 99%