Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS
Abstract
:1. Introduction
2. Materials and Methods
2.1. Ethics Approval
2.2. Urine Specimen Collection on Filter Paper
2.3. Reagents
2.3.1. Analyte Stock Solutions
2.3.2. Internal Standard Stock Solutions
2.3.3. Standard Curves and Quality Control Working Solutions
2.3.4. Resuspension Solution
2.4. Sample Processing
2.5. Instrumentation and Parameters
2.5.1. UPLC Parameters
2.5.2. MS/MS Parameters
2.5.3. Quantification Parameters
2.6. Method Validation
3. Results and Discussion
3.1. Method Development and Validation
3.2. Reference Values
3.3. Urine Samples from Confirmed MPS Patients
4. Conclusions
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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UPLC Parameters | |
---|---|
Column | BEH Amide |
ID × Length | 2.1 × 50 mm |
Particle size | 1.7 μm |
Column temperature | 40 °C |
Weak Wash solvent | 95:5 ACN:H2O + 0.2% FA |
Strong Wash solvent | 50:50 MeOH:H2O |
Injection volume | 4.0 μL |
Injector | Flow-through needle |
Autosampler temperature | 10 °C |
Mobile phase A | 95:5 ACN:H2O + 0.2% FA + 10 mM CH3COONH4 |
Mobile phase B | 10:90 ACN:H2O + 0.2% FA + 10 mM CH3COONH4 |
Flow rate | 0.8 mL/min |
Gradient (% mobile phase B) | 0.0 → 0.1 min: 10% 0.1 → 0.5 min: 10 →60% (Linear gradient) 0.5 → 1.0 min: 10% |
MS/MS Parameters | |||
Ionization mode | ESI | ||
Polarity | Positive | ||
Acquisition mode | MRM | ||
Capillary voltage | 3.44 kV | ||
Desolvation temperature | 500 °C | ||
Desolvation gas flow | 700 L/h | ||
Cone gas flow | 150 L/h | ||
Source temperature Dwell time | 120 °C 0.05 s | ||
Span | 0 Da | ||
Transitions | |||
Compound | Transitions (m/z) | Cone Voltage (V) | Collision Energy (V) |
DS | 426.2 > 236.1 | 36 | 12 |
DS-D6 IS | 432.2 > 239.1 | 36 | 12 |
HS | 384.2 > 161.9 | 18 | 18 |
HS-D6 IS | 390.2 > 161.9 | 18 | 18 |
Creatinine | 113.9 > 86.0 | 34 | 10 |
Creatinine-D3 | 116.9 > 89.0 | 34 | 10 |
Patient | MPS Type | Gender | Age (Years) | ERT | HS * | DS * | Control HS * | Control DS * |
---|---|---|---|---|---|---|---|---|
1 | I (H) | M | 1.7 | U | 86.4 | 42.6 | 8.4 | 1.7 |
2 | I (H/S) | M | 8.0 | U | 68.7 | 36.4 | 9.7 | 1.4 |
3 | I (H/S) | F | 10 | U | 48.1 | 24.2 | 4.0 | 1.4 |
4 | II | M | 3.0 | U | 150.3 | 72.6 | 10.6 | 1.3 |
5 | II | M | 5.0 | U | 45.4 | 15.1 | 9.6 | 1.7 |
6 | II | M | 5.0 | U | 47.5 | 14.9 | 9.4 | 0.8 |
7 | II | M | 5.0 | T | 13.4 | 3.8 | 7.3 | 2.3 |
8 | II | M | 6.0 | T | 16.3 | 4.9 | 5.8 | 0.8 |
9 | II | M | 7.0 | T | 12.9 | 5.2 | 4.8 | 1.2 |
10 | IIIA | M | 3.0 | U | 142.1 | 4.0 | 8.4 | 1.8 |
11 | IIIB | F | 1.8 | U | 56.5 | 1.6 | 10.2 | 1.6 |
12 | VI | F | 10 | U | 65.4 | 46.4 | 7.7 | 2.9 |
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Menkovic, I.; Marchand, A.-S.; Boutin, M.; Auray-Blais, C. Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS. Diagnostics 2019, 9, 195. https://doi.org/10.3390/diagnostics9040195
Menkovic I, Marchand A-S, Boutin M, Auray-Blais C. Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS. Diagnostics. 2019; 9(4):195. https://doi.org/10.3390/diagnostics9040195
Chicago/Turabian StyleMenkovic, Iskren, Anne-Sophie Marchand, Michel Boutin, and Christiane Auray-Blais. 2019. "Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS" Diagnostics 9, no. 4: 195. https://doi.org/10.3390/diagnostics9040195