JIMD Reports - Case and Research Reports, 2012/2

129 Pages·2012·3.011 MB·English

by  Ahmad N. Alodaib, Kevin Carpenter (auth.)

JIMD Reports
Volume 5
.
SSIEM
JIMD Reports –
Case and Research Reports,
2012/2
Editor
SocietyfortheStudyofInborn
ErrorsofMetabolism
c/oACB
TooleySt130-132
SE12TULondon
UnitedKingdom
ISSN2192-8304 e-ISSN2192-8312
ISBN978-3-642-28095-5 e-ISBN978-3-642-28096-2
DOI10.1007/978-3-642-28096-2
SpringerHeidelbergDordrechtLondonNewYork
#SSIEMandSpringer-VerlagBerlinHeidelberg2012
Thisworkissubjecttocopyright.Allrightsarereserved,whetherthewholeorpartofthematerialisconcerned,
specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on
microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is
permittedonlyundertheprovisionsoftheGermanCopyrightLawofSeptember9,1965,initscurrentversion,and
permissionforusemustalwaysbeobtainedfromSpringer.ViolationsareliabletoprosecutionundertheGerman
CopyrightLaw.
Theuseofgeneraldescriptivenames,registerednames,trademarks,etc.inthispublicationdoesnotimply,eveninthe
absenceofaspecificstatement,thatsuchnamesareexemptfromtherelevantprotectivelawsandregulationsand
thereforefreeforgeneraluse.
Printedonacid-freepaper
SpringerispartofSpringerScience+BusinessMedia(www.springer.com)
Contents
HomocysteineMeasurementinDriedBloodSpotforNeonatalDetection
ofHomocystinurias..................................................... 1
AhmadN.Alodaib,KevinCarpenter,VeronicaWiley,TiffanyWotton,
JohnChristodoulou,andBridgetWilcken
GalactokinaseDeficiencyinaPatientwithCongenitalHyperinsulinism........... 7
MashbatBayarchimeg,DuniaIsmail,AmandaLam,DerekBurk,JeremyKirk,
WolfgangHogler,SarahEFlanagan,SianEllard,andKhalidHussain
HeartFailureDuetoSevereHypertrophicCardiomyopathyReversed
byLowCalorie,HighProteinDietaryAdjustmentsinaGlycogen
StorageDiseaseTypeIIIaPatient ........................................ 13
ChristiaanP.Sentner,KadirCaliskan,WimB.Vletter,andG.PeterA.Smit
UnusualCardiac‘‘Masses’’inaNewbornwithInfantilePompeDisease.......... 17
DanielT.Swarr,BethKaufman,MarkA.Fogel,RichardFinkel,andJayaGanesh
TheUseofElevatedDosesofGenistein-RichSoyExtractintheGene
Expression-TargetedIsoflavoneTherapyforSanfilippoDiseasePatients ......... 21
VeˇraMalinova´,GrzegorzWe˛grzyn,andMagdalenaNarajczyk
PregnancyDuringNitisinoneTreatmentforTyrosinaemiaTypeI:
FirstHumanExperience ............................................... 27
A.Vanclooster,R.Devlieger,W.Meersseman,A.Spraul,K.VandeKerckhove,
P.Vermeersch,A.Meulemans,K.Allegaert,andD.Cassiman
MolybdenumCofactorDeficiency:ANewHPLCMethodforFastQuantification
ofS-SulfocysteineinUrineandSerum .................................... 35
AbdelAliBelaidi,SitaArjune,JoseAngelSantamaria-Araujo,
Jo¨rnOliverSass,andGuenterSchwarz
v
vi Contents
AdeninePhosphoribosyltransferaseDeficiency:AnUnderdiagnosed
CauseofLithiasisandRenalFailure...................................... 45
GiuseppinaMarra,PaoloGillesVercelloni,AlbertoEdefonti,GianantonioManzoni,
MariaAngelaPavesi,GiovanniBattistaFogazzi,GiuseppeGarigali,
LionelMockel,andIreneCeballosPicot
Alkaptonuria:LeadingtotheTreasureinExceptions ........................ 49
TimothyM.Cox
Chaperone-LikeTherapywithTetrahydrobiopterininClinicalTrials
forPhenylketonuria:IsGenotypeaPredictorofResponse? ................... 59
ChristinehN.Sarkissian,AlejandraGamez,PatrickScott,JeromeDauvillier,
AlejandroDorenbaum,CharlesR.Scriver,andRaymondC.Stevens
Riboflavin-ResponsiveTrimethylaminuriainaPatientwithHomocystinuria
onBetaineTherapy ................................................... 71
NigelJ.Manning,ElizabethK.Allen,RichardJ.Kirk,
MarkJ.Sharrard,andEdwinJ.Smith
SuccessfulNoninvasiveVentilationandEnzymeReplacementTherapy
inanAdultPatientwithMorbusHunter................................... 77
M.WesthoffandP.Litterst
Hyperargininemia:AFamilywithaNovelMutationinanUnexpectedSite....... 83
Y.HaimiCohen,R.Bargal,M.Zeigler,T.Markus-Eidlitz,V.Zuri,andA.Zeharia
ARareGalactosemiaComplication:VitreousHemorrhage.................... 89
SahinTakci,SibelKadayifcilar,TurgayCoskun,SuleYigit,andBurcuHismi
NeonatalCholestasisasInitialManifestationofType2GaucherDisease:
AContinuumintheSpectrumofEarlyOnsetGaucherDisease ................ 95
AbdallahF.Elias,MariaRonningenJohnson,JohnK.Boitnott,andDavidValle
ClinicalandBiochemicalProfilesofMapleSyrupUrineDiseaseinMalaysian
Children ............................................................ 99
ZMd.Yunus,DPAbgKamaludin,MMamat,YSChoy,andLHNgu
SevereInfusionReactionstoFabryEnzymeReplacementTherapy:Rechallenge
AfterTracheostomy .................................................. 109
K.Nicholls,K.Bleasel,andG.Becker
InfantileProgressiveHepatoencephalomyopathywithCombinedOXPHOS
DeficiencyduetoMutationsintheMitochondrialTranslationElongation
FactorGeneGFM1................................................... 113
S.Balasubramaniam,Y.S.Choy,A.Talib,M.D.Norsiah,
L.P.vandenHeuvel,andR.J.Rodenburg
Contents vii
ExpandingtheSpectrumofPMM2-CDGPhenotype ........................ 123
SandrineVuillaumier-Barrot,BertrandIsidor,ThierryDupre´,ChristianeLeBizec,
AlbertDavid,andNathalieSeta
TheKetogenicDietIsWellToleratedandCanBeEffectiveinPatients
withArgininosuccinateLyaseDeficiencyandRefractoryEpilepsy ............. 127
RosannePeuscher,MoniqueE.Dijsselhof,NicoG.Abeling,MargreetVanRijn,
FrancjanJ.VanSpronsen,andAnnetM.Bosch
JIMDReports
DOI10.1007/8904_2011_109
RESEARCH REPORT
Homocysteine Measurement in Dried Blood
Spot for Neonatal Detection of Homocystinurias
Ahmad N. Alodaib(cid:129)Kevin Carpenter(cid:129)
Veronica Wiley(cid:129)Tiffany Wotton(cid:129)John Christodoulou(cid:129)
Bridget Wilcken
Received:6June2011/Revised:3October2011/Accepted:25October2011/Publishedonline:13December2011
#SSIEMandSpringer-VerlagBerlinHeidelberg2011
Abstract Expanded newborn screening (NBS) leads to an mass spectrometry (LC-MS/MS) with stable isotope-labelled
increased number of false positive results, causing parental internalstandardsforhomocysteine.Analyteswereseparated
anxiety, greater follow-up costs, and the need for further using reverse phase chromatography with a total run time of
metabolic investigations. We developed and validated a 3min.Themethodwaslinearovertherangeof10–100mmol/L
second-tierapproachforNBSofhomocystinuriasbymeasur- of tHcy and showed excellent precision; intra-batch CV was
ingthetotalhomocysteine(tHcy)ontheinitialdriedbloodspot 4%andinter-batchprecision6.5%.Comparisonof59plasma
(DBS)samplestoreducetheneedforfurtherinvestigation,and values with DBS for tHcy taken at the same time showed
investigated newborn DBS homocysteine values in patients excellent correlation, (r2 > 0.97). The reference range for
withhomocystinuria.TotalDBShomocysteinewasmeasured currentneonatalsampleswas5.4–10.7mmol/L(n ¼ 99),and
in normal newborns, and retrospectively in newborns with forthestoredneonatalsamples(storeddry,sealedinplasticat
established disorders, using liquid chromatography tandem room temperature for 10 years) was 1.7–5.5 mmol/L,
(n ¼ 50),bothbeingnormallydistributed.Theclinicalutility
of this method was checked by retrospective analysis of
Communicatedby:GeorgHoffmann. stored NBS samples from patients with different forms of
homocystinuria, including four different remethylating dis-
Competinginterests:Nonedeclared.
: : : : orders. All had clear elevations of tHcy.
A.N.Alodaib K:.Carpenter V.Wiley T.Wotton
J.Christodoulou B.Wilcken
DisciplineofPaediatricsandChildHealth,UniversityofSydney,
TheChildren’sHospitalatWestmeadClinicalSchool,Locked Abbreviations
Bag4001,Westmead,NSW2145,Australia
AC Acylcarnitine
A.N.Alodaib C3 Propionylcarnitine
DepartmentofGenetics(MBC-03),KingFaisalSpecialist cbl Cobalamin
HospitalandResearchCentre,P.O.Box3354,Riyadh11211, CBS Cystathionine b-synthase
SaudiArabia
DBS Dried blood spot
: : :
K.Carpenter V.Wiley J.Christodoulou B.Wilcken ESI-MS/ Electrospray tandem mass spectrometry
DisciplineofGeneticMedicine,UniversityofSydney,The MS
Children’sHospitalatWestmeadClinicalSchool,LockedBag
LC-MS/ Liquid chromatography tandem mass spec-
4001,Westmead,NSW2145,Australia
MS trometry
:
K.Carpenter(*) B.Wilcken Met Methionine
NSWBiochemicalGeneticsService,TheChildren’sHospitalat MS/MS Tandem mass spectrometry
Westmead,LockedBag4001,Westmead,NSW2145,Australia
MTHFR Methylene tetrahydrofolate reductase
e-mail:[email protected]
NBS Newborn screening
: :
V.Wiley T.Wotton B.Wilcken tHcy Total homocysteine
NSWNewbornScreeningProgramme,TheChildren’sHospitalat
Westmead,LockedBag4001,Westmead,NSW2145,Australia
2 JIMDReports
Introduction Materials and Methods
The homocystinurias are a diverse group of disorders Reagents
comprising one defect in trans-sulphuration, cystathionine
b-synthase (CBS) deficiency, and defects in remethylation, DL-Homocysteine(95%pure)waspurchasedfromAldrich
principally disorders of cobalamin (cbl) metabolism, cbl C, Chemical Company (Sydney, NSW, Australia). DL-
D, E, F, G defects, defects of folate metabolism, and Dithiothreitol was purchased from Sigma Chemical Com-
methylene tetrahydrofolate reductase (MTHFR) deficiency pany(Sydney,NSW,Australia).HPLC-grademethanolwas
(Fowler 1997). purchased from BDH chemicals (Minto, NSW, Australia).
The clinical presentations are diverse. Homocystinuria Formicacid(FA)wasobtainedfromAjaxFinechem(Taren
duetoCBSdeficiencyisassociatedwiththrombo-embolic Point, NSW, Australia). The isotopically labelled internal
events, ectopia lentis, mental retardation, psychiatric standard (Homocystine (cid:2)d ) for Hcy was purchased from
8
disorders, and skeletal abnormalities (Refsum et al. 2004; CambridgeIsotopeLaboratories(Andover,MA,USA).The
Yap and Naughten 1998). The remethylation disorders filter paper used for the sample collection was grade 903
sharea somewhatsimilar clinicalpresentationwithfailure (Whatman, Kent, UK). Ultrapure water was generated
to thrive, acute or chronic neurological deterioration, using a Millipore-MilliQ system (Millipore, Kilsyth, VIC,
developmental delay, and sometimes seizures, hypotonia, Australia).
microcephaly, feeding difficulties, stomatitis, and micro-
cephaly. The cbl defects also present with megaloblastic Samples
anaemia, although measured serum vitamin B12 may be
normal (Digest 2007; Schiff et al. 2011). In the cbl and The reference range of tHcy in normal newborn DBS was
folate deficiencies, megaloblastic anaemia is a classical established using 99 current neonatal samples. A separate
clinical feature, and there are different neuropsychiatric range for samples stored dry, sealed in plastic at room
abnormalities which can appear in cbl deficiency due to temperature was obtained using 50 samples stored for
demyelinationofperipheralnerves,thespinalcord,cranial 10 years and analysed by LC-MS/MS. As part of the
nerves, and the brain (Whitehead 2006). Treatment is method validation, 59 DBS samples were obtained from
available for all these disorders, and there seems likely to blood samples of homocystinuric patients submitted for
be a clinical advantage in starting treatment in the analysis of plasma homocysteine. The tHcy determined in
newborn period. these DBS on LC-MS/MS was then correlated with
Newborn screening (NBS) by tandem mass spectrome- simultaneous plasma sample results. Plasma tHcy was
try routinely detects pyridoxine non-responsive CBS analysedbyLC-MS/MSmethoddevelopedinhouse,based
deficiency and cblC defect, and may be able to detect on the method of Magera et al. (1999). In addition, we
the other disorders. NBS for the homocystinurias involves measured DBS tHcy in six patients with confirmed CBS
initial measurement of methionine (Met) to detect CBS deficiency, ten cblC deficient patients, two cblG patients,
deficiency, in which Met levels are elevated, and pro- and one MTHFR patient. These samples were stored at
pionyl and acetyl carnitines (C3, C2) to detect the cblC room temperature under dry conditions.
defect, and possibly other remethylation defects. Using
this first-tier approach sensitivity is poor for CBS Experimental Conditions
deficiency as a whole, and specificity somewhat poor for
both (Wilcken et al. 2003). The HPLC analysis of tHcy in DBS was based on the
Measurement of total homocysteine (tHcy) in DBS method of McCann et al. (2003) with some modifications.
samples has been used as a second-tier test in screening A Waters 1,525 m Binary HPLC Pump system (Waters
forCBSdeficiency(Maternetal.2007),andrecentlyasan Corporation, Rydalmere, NSW, Australia) was used, and
initial test (Gan-Schreier et al. 2009). Measurement of separationfromthebulkofthesamplematrixperformedon
methionine and methionine:phenylalanine ratios to detect an Altima C (150 (cid:3) 2.1 mm, 3 mm) column (Alltech
18
low levels has been thought useful for the detection of Associates Australia Pty Ltd, Baulkham Hills, NSW,
remethylation defects (Tortorelli et al. 2010; Turgeon et al. Australia) equipped with a cartridge guard column. The
2010). chromatographic separation was performed using isocratic
In this chapter, we report our findings from measuring elution with a mobile phase of methanol:water (30:70, v/v)
tHcy in DBS in normal newborns and, retrospectively, in containing 0.1% formic acid, injection volume 10 mL, flow
newborns with established disorders, using an LC-MS/MS rate of 200 mL/min, and total run time of 3 min. A Quattro
method. Micro tandem mass spectrometer (Waters Corporation,