Clinical Applications of Mass Spectrometry in Biomolecular Analysis: Methods and Protocols

540 Pages·2022·16.341 MB·English

by  Uttam Garg (editor)

Methods in
Molecular Biology 2546
Uttam Garg Editor
Clinical Applications
of Mass Spectro metry
in Biomolecular
Analysis
Methods and Protocols
Second Edition
M M B
ETHODS IN OLECULAR IO LO GY
SeriesEditor
JohnM.Walker
School of Lifeand MedicalSciences
University ofHertfordshire
Hatfield, Hertfordshire, UK
Forfurther volumes:
http://www.springer.com/series/7651
For over 35 years, biological scientists have come to rely on the research protocols and
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Clinical Applications of Mass
Spectrometry in Biomolecular
Analysis
Methods and Protocols
Second Edition
Edited by
Uttam Garg
Department of Pathology and Laboratory Medicine, Children’s Mercy Hospital, Kansas City, MO, USA
Editor
UttamGarg
DepartmentofPathology
andLaboratoryMedicine
Children’sMercyHospital
KansasCity,MO,USA
ISSN1064-3745 ISSN1940-6029 (electronic)
MethodsinMolecularBiology
ISBN978-1-0716-2564-4 ISBN978-1-0716-2565-1 (eBook)
https://doi.org/10.1007/978-1-0716-2565-1
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ofSpringerNature2022
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developed.
Theuseofgeneraldescriptivenames,registerednames,trademarks,servicemarks,etc.inthispublicationdoesnotimply,
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Dedication
Thisbookisdedicatedtomywife,Jyotsna,whoistheepitomeofstrengthandinspiration,
daughtersMeghaandMohini,andson-in-lawYafeez.
v
Preface
Once only considered for specialized laboratories, mass spectrometry is increasingly being
usedbyroutineclinicallaboratories.Thishasbeenmadepossiblebythecompactbench-top,
relatively inexpensive, and user-friendly systems. With these benefits, applications of mass
spectrometry have grown in all laboratory fields including endocrinology, biochemical
genetics, drug analysis, proteomics, and pathogen identification. Mass spectrometry has
key advantages including excellent specificity, multi-component analysis, and limited need
forspecializedreagents.
Similartothefirstedition,thesecondeditionofClinicalApplicationsofMassSpectrom-
etry in Biomolecular Analysis: Methods and Protocols provides stepwise instructions for the
analysis of a number of analytes of clinical importance. This edition includes mostly new
chapters,andafewchaptersfromthepreviouseditionshavebeenupdated.
Iamindebtedtotheauthorsandmycolleaguesfor theirexcellentcontributionstothe
contents of this book. Also, I would like to thank Dr. John Walker, the series editor, and
AnnaRakovskyandDavidC.Casey,SpringerProtocolseditors.
KansasCity,MO,USA UttamGarg
vii
Contents
Dedication.................................................................. v
Preface ..................................................................... vii
Contributors................................................................. xiii
1 IntroductiontoMassSpectrometryforBimolecularAnalysisinaClinical
Laboratory......... ....... ........ ....... ....... ........ ....... ........ 1
Y.VictoriaZhangandUttamGarg
2 SystemPerformanceMonitoringinClinicalLiquidChromatography-Tandem
MassSpectrometry(LC-MS/MS) .......... ....... ........ ....... ........ 13
ShannonHaymond
3 TandemMassSpectrometryfor theAnalysisofPlasma/SerumAcylcarnitines
for theDiagnosisofCertainOrganicAciduriasandFattyAcidOxidation
Disorders .......... ....... ...... .. ...... ....... ......... ....... ........ 27
DavidScott,C.ClintonFrazeeIII,BryceHeese,andUttamGarg
4 QuantificationofPlasmaS-adenosylmethionineandS-adenosylhomocysteine
UsingLiquidChromatography-Electrospray-TandemMassSpectrometry ..... 35
ErlandArning,BrandiWasek,andTeodoro Bottiglieri
5 QuantitationofAldosteroneinSerumorPlasmaUsingLiquid
Chromatography-TandemMassSpectrometry(LC-MS/MS) ........ ........ 45
J.GracevanderGugtenandDanielT.Holmes
6 ComprehensiveDeterminationofAminoAcidsforDiagnosis
ofInbornErrorsofMetabolism ..... ....... ....... ........ ....... ........ 55
StephenM.Roper,AnnetteL.Weindel,andDennisJ.Dietzen
7 QuantificationofBranched-ChainAminoAcidsinPlasma
byHigh-PerformanceLiquidChromatography-Tandem
MassSpectrometry(LC-MS/MS) ......... ...... .. ........ ....... ........ 65
HamedPiri-Moghadam,AlanMiller,DebraPronger,
FayeVicente,JoelCharrow,ShannonHaymond,andDavidC.Lin
8 QuantitationofButyrylcarnitine,Isobutyrylcarnitine,andGlutarylcarnitine
inUrineUsingUltra-PerformanceLiquidChromatography-Tandem
MassSpectrometry(UPLC-MS/MS) ....... ....... ........ ....... ........ 83
JudithA.Hobert,StephenA.Brose,andMarziaPasquali
9 QuantificationofFreeandTotalCarnitineinSerumUsingLiquid
ChromatographyTandemMassSpectrometry....... ........ ....... ........ 95
SerenaBaird,C.ClintonFrazeeIII,andUttamGarg
10 SensitiveandRobustLC-MS/MSAnalysisofSalivaryCortisol
inNegativeMode......... ..... .... ....... ....... ........ ....... ........ 105
WayneB.Anderson,PutumaP.Gqamana,andY.VictoriaZhang
11 MeasurementofUrinaryFreeCortisolandCortisonebyLC-MS/MS ........ 119
JulieA.Ray,ErikKish-Trier,andLisaM.Johnson
ix
x Contents
12 LaboratoryDiagnosisofCerebralCreatineDeficiencySyndromes
byDeterminingCreatineandGuanidinoacetateinPlasmaandUrine ......... 129
NingLiuandQinSun
13 QuantitationofEstradiolandTestosteroneinSerumUsingLC-MS/MS...... 141
RyanC.Schofield,DanielKirchoff,andDeanC.Carlow
14 QuantitationofFattyAcidsinSerum/PlasmaandRedBloodCells
byGasChromatography-NegativeChemicalIonization-Mass
Spectrometry....... ....... ........ ....... ....... ........ ....... ........ 149
ErikKish-TrierandTatianaYuzyuk
15 Quantitationofγ-AminobutyricAcidinCerebrospinalFluid
UsingLiquidChromatography-Electrospray-TandemMass
Spectrometry....... ....... ........ ....... ...... ....... .. ...... ....... .. 165
ErlandArning,BrandiWasek,andTeodoroBottiglieri
16 ASimple,Fast,andReliableLC-MS/MSMethodfor theMeasurement
ofHomovanillicAcidandVanillylmandelicAcidinUrineSpecimens.......... 175
VrajeshPandyaandElizabethL.Frank
17 QuantitationofNeuroblastomaMarkersHomovanillicAcid(HVA)
andVanillylmandelicAcid(VMA)inUrinebyGasChromatography–Mass
Spectrometry(GC/MS).... ........ ....... ....... ........ ....... ........ 185
MelissaBeals,BheemrajRamoo,C.ClintonFrazeeIII,andUttamGarg
18 Quantificationof5-HydroxyindoleaceticAcidinUrinebyUltra-performance
LiquidChromatographyTandemMassSpectrometry ........ ....... ........ 195
HeatherA.NelsonandElizabethL.Frank
19 QuantitationofIgGSubclassesinSerumUsingLiquid
Chromatography–TandemMassSpectrometry(LC–MS/MS)... ..... ...... .. 205
J.GracevanderGugten,DanielT.Holmes,andAndreMattman
20 QuantificationofInsulinAnalogsbyLiquidChromatography–High-
ResolutionMassSpectrometry ...... ....... ....... ........ ....... ........ 217
EricaM.Fatica,NicholasE.Larkey,andRavinderJ.Singh
21 DifferentiationofCommonIGF-1VariantsUsingHRMSCOM
DeterminationwithFollow-UpMS/MSVerification......... ....... ........ 227
NicholasE.Larkey,EricaM.Fatica,andRavinderJ.Singh
22 MonitoringandIdentifyingInsulin-LikeGrowthFactor1Variants
byLiquidChromatography–High-ResolutionMassSpectrometry
inaClinicalLaboratory..... ........ ....... ....... ........ ...... ... ...... 239
IevgenMotorykin,AllisonLi,andZengruWu
23 QuantitationofLactateinCerebrospinalFluidUsingLiquid
Chromatography–Electrospray-TandemMassSpectrometry.......... ........ 253
BrandiWasekandErlandArning
24 MultiplexLysosomalEnzymeActivityAssayonDriedBlood
SpotsUsingTandemMassSpectrometry .... ....... ........ ....... ........ 261
Hsuan-Chieh(Joyce)LiaoandHsiao-JanChen
25 PlasmaLysosphingolipidBiomarkerMeasurementbyLiquid
ChromatographyTandemMassSpectrometry....... ........ ....... ........ 271
BrandonB.StaufferandChunliYu
Contents xi
26 Detectionof13C-MannitolandOtherSaccharidesUsingTandem
MassSpectrometryforEvaluationofIntestinalPermeability
orLeakyGut....... ....... ........ ....... ....... ........ ....... ........ 285
NicholasE.Larkey,EricaM.Fatica,andRavinderJ.Singh
27 LC–MS/MSMethodforHigh-ThroughputAnalysisofMethylmalonic
AcidinSerum,Plasma,andUrine:MethodforAnalyzingIsomers
WithoutChromatographicSeparation....... ....... ........ ....... ........ 295
MarkM.Kushnir,GordonJ.Nelson,ElizabethL.Frank,
andAlanL.Rockwood
28 Quantitationof5-MethyltetrahydrofolateinCerebrospinalFluid
UsingLiquidChromatography-Electrospray-TandemMass
Spectrometry....... ....... ..... ... ...... ....... ...... ... ....... ........ 311
ErlandArning,BrandiWasek,andTeodoroBottiglieri
29 ScreeningofOrganicAciduriasbyGasChromatography–Mass
Spectrometry(GC–MS) .... ........ ....... ....... ........ ....... ........ 321
DavidScott,C.ClintonFrazeeIII,andUttamGarg
30 IdentificationofUrineOrganicAcidsfor theDetectionofInborn
ErrorsofMetabolismUsingUreaseandGasChromatography–Mass
Spectrometry(GC/MS).... ........ ....... ....... ...... .. ...... ....... .. 335
StanleyF.Lo,KeelyPierzchalski,VeltaYoung,andWilliamJ.Rhead
31 QuantitativeOrganicAcidsinUrinebyTwo-DimensionalGas
Chromatography-Time-of-FlightMassSpectrometry
(GCxGC-TOFMS)......... ........ ....... ....... ........ ....... ........ 351
ErlandArning,PaulaAshcraft,JeannaBennett-Firmin,
andLawrenceSweetman
32 QuantificationofParathyroidHormoneanditsFragmentsinSerum
byLiquidChromatography–High-ResolutionMassSpectrometry .... ........ 365
EricaM.Fatica,NicholasE.Larkey,andRavinderJ.Singh
33 HighSensitivityMeasurementofParathyroidHormone–Related
Protein(PTHrP)inPlasmabyLC-MS/MS......... ........ ....... ........ 375
MarkM.KushnirandAlanL.Rockwood
34 QuantitationofPhenylalanineinDriedBloodSpotUsingLiquid
ChromatographyTandemMassSpectrometryforMonitoring
ofPatientswithPhenylketonuria(PKU)..... ....... ........ ....... ........ 391
SerenaBaird,C.ClintonFrazeeIII,andUttamGarg
35 AnOptimizedProcedureforProteomicAnalysisofExtracellular
VesiclesUsingIn-StageTipDigestionandDIALC-MS/MS:
ApplicationtoLiquidBiopsyinCancer...... ....... ........ ....... ........ 401
RajeshKumarSoni,LyssaDimapanat,ManpreetS.Katari,
andAlexJ.Rai
36 High-ThroughputPlasmaProteomicProfiling ...... ........ ....... ........ 411
RajeshKumarSoni
37 QuantitationofPurineinUrinebyUltra-PerformanceLiquid
Chromatography-TandemMassSpectrometry....... .. ...... ....... ........ 421
QinSun