JIMD Reports - Case and Research Reports, 2012/1

137 Pages·2012·3.016 MB·English

by  Lindsay S. Paull, Michael J. Lipinski (auth.)

JIMD Reports
Volume 4
.
SSIEM
JIMD Reports –
Case and Research Reports,
2012/1
Editor
SocietyfortheStudyofInborn
ErrorsofMetabolism
c/oACB
TooleySt130-132
SE12TULondon
UnitedKingdom
ISSN2192-8304 e-ISSN2192-8312
ISBN978-3-642-25751-3 e-ISBN978-3-642-25752-0
DOI10.1007/978-3-642-25752-0
SpringerHeidelbergDordrechtLondonNewYork
#SSIEMandSpringer-VerlagBerlinHeidelberg2012
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Contents
FemalewithFabryDiseaseUnknowinglyDonatesAffectedKidneytoSister:
ACallforPre-transplantGeneticTesting................................... 1
LindsayS.Paull,MichaelJ.Lipinski,WilliamG.Wilson,andShawnE.Lipinski
MitochondrialRespiratoryChainHepatopathies:RoleofLiverTransplantation.
ACaseSeriesofFivePatients ............................................ 5
ElisabethDeGreef,JohnChristodoulou,IanEAlexander,AlbertShun,
EdwardVO’Loughlin,DavidRThorburn,VickiJermyn,andMichaelOStormon
GlycineandL-ArginineTreatmentCausesHyperhomocysteinemiainCerebral
CreatineTransporterDeficiencyPatients .................................. 13
CristinaVillar,JaumeCampistol,CarmenFons,JudithArmstrong,AnnaMas,
AidaOrmazabal,andRafaelArtuch
CysticFibrosisNewbornScreening:DistributionofBloodImmunoreactive
TrypsinogenConcentrationsinHypertrypsinemicNeonates ................... 17
ValentinaParacchini,ManuelaSeia,SaraRaimondi,LucyCostantino,PatriziaCapasso,
LuigiPorcaro,CarlaColombo,DomenicoACoviello,TizianaMariani,
EmanuelaManzoni,MonicaSangiovanni,andCarloCorbetta
GastrointestinalPhenotypeofFabryDiseaseinaPatientwithPseudoobstruction
Syndrome ........................................................... 25
PiotrBuda,AnnaWieteska-Klimczak,JanuszKsiazyk,PiotrGietka
AnnaSmorczewska-Kiljan,MaciejPronicki,BarbaraCzartoryska,
andAnnaTylki-Szymanska
GenerationofaHumanNeuronalStableCellModelforNiemann–PickC
DiseasebyRNAInterference............................................ 29
LauraRodr´ıguez-Pascau,MariaJosepColl,JosefinaCasas,Llu¨ısaVilageliu,
andDanielGrinberg
TheParadoxofHyperdopaminuriainAromaticL-AminoAcidDeficiency
Explained ........................................................... 39
TessaWassenberg,LeoA.H.Monnens,BenP.B.H.Geurtz,RonA.Wevers,
MarcelM.Verbeek,andMiche`lA.A.P.Willemsen
v
vi Contents
APatientwithCongenitalGeneralizedLipodystrophyDueToaNovelMutation
inBSCL2:IndicationsforSecondaryMitochondrialDysfunction ............... 47
EllenH.Jeninga,MoniquedeVroede,NicoleHamers,JohannesM.P.J.Breur,
NandaM.Verhoeven-Duif,RuudBerger,andEricKalkhoven
Identificationof11NovelHomogentisate1,2DioxygenaseVariantsinAlkaptonuria
PatientsandEstablishmentofaNovelLOVD-BasedHGDMutationDatabase .... 55
AndreaZatkova,TatianaSedlackova,JanRadvansky,HelenaPolakova,
MartinaNemethova,RobertAquaron,IsmailDursun,JeannetteL.Usher,
andLudevitKadasi
CompleteDeletionofaPOLG1AlleleinaPatientwithAlpersSyndrome......... 67
KarinNaess,MichelaBarbaro,HeleneBruhn,RolfWibom,IngerNennesmo,
UlrikavonDo¨beln,Nils-Go¨ranLarsson,AntalNemeth,andNicoleLesko
EpilepsyinBiotinidaseDeficiencyAfterBiotinTreatment..................... 75
SalvadorIba´n˜ezMico´,RosarioDomingoJime´nez,EduardoMart´ınezSalcedo,
HelenaAlarco´nMart´ınez,AlbertoPucheMira,andCarlosCasasFerna´ndez
PlasmaticandUrinaryGlycosaminoglycansCharacterizationin
MucopolysaccharidosisIIPatientTreatedwithEnzyme-ReplacementTherapy
withIdursulfase ...................................................... 79
GiovanniV.Coppa,DaniaBuzzega,LuciaZampini,FrancescaMaccari,LuciaSantoro,
FabioGaleotti,TizianaGaleazzi,OrazioGabrielli,andNicolaVolpi
FunctionalCharacterizationofFiveProtoporphyrinogenoxidaseMissenseMutations
FoundinArgentineanVariegatePorphyriaPatients ......................... 91
ManuelMe´ndez,BarbaraX.Granata,Mar´ıaJ.Mora´nJime´nez,VictoriaE.Parera,
AlciraBatlle,RafaelEnr´ıquezdeSalamanca,andMar´ıaV.Rossetti
NeurodegenerationwithBrainIronAccumulationonMRI:AnAdultCase
ofa-Mannosidosis..................................................... 99
EvelienZoons,TomJ.deKoning,NicoG.G.M.Abeling,andMarinaA.J.Tijssen
DeficiencyofSubunit6oftheConservedOligomericGolgiComplex(COG6-CDG):
SecondPatient,DifferentPhenotype..................................... 103
S.Huybrechts,C.DeLaet,P.Bontems,S.Rooze,H.Souayah,Y.Sznajer,L.Sturiale,
D.Garozzo,G.Matthijs,A.Ferster,J.Jaeken,andP.Goyens
ANon-classicalPresentationofTangierDiseasewithThreeABCA1Mutations... 109
MuhammadAliPervaiz,GeraldGau,AllanS.Jaffe,AmyK.Saenger,LinneaBaudhuin,
andJayEllison
LymphaticEdemainCongenitalDisordersofGlycosylation.................. 113
RuudHJVerstegen,MirandaTheodore,HansvandeKlerk,andEvaMorava
Contents vii
Alu–AluRecombinationUnderlyingtheFirstLargeGenomicDeletion
inGlcNAc-PhosphotransferaseAlpha/Beta(GNPTAB)GeneinaMLII
Alpha/BetaPatient................................................... 117
MariaFranciscaCoutinho,LilianadaSilvaSantos,Lu´ciaLacerda,SofiaQuental,
FlemmingWibrand,AllanM.Lund,KlausB.Johansen,MariaJoa˜oPrata,
andSandraAlves
ReportofaLargeBrazilianFamilyWithaVeryAttenuatedForm
ofHunterSyndrome(MPSII).......................................... 125
C.R.D.C.Quaio,H.Grinberg,M.L.C.Vieira,A.C.Paula,G.N.Leal,I.Gomy,
S.Leistner-Segal,R.Giugliani,D.R.Bertola,andC.A.Kim
HomozygosityforNon-H1069QMissenseMutationsinATP7BGeneandEarly
SevereLiverDisease:ReportofTwoFamiliesandaMeta-analysis ............ 129
JulnarUsta,HusseinAbuDaya,HoussamHalawi,IbraheemAl-Shareef,OmarEl-Rifai,
AhmadH.Malli,AlaI.Sharara,RobertH.Habib,andKassemBarada
JIMDReports
DOI10.1007/8904_2011_108
CASE REPORT
Female with Fabry Disease Unknowingly Donates Affected
Kidney to Sister: A Call for Pre-transplant Genetic Testing
Lindsay S. Paull(cid:129)Michael J. Lipinski(cid:129)
William G. Wilson(cid:129)Shawn E. Lipinski
Received:26April2011/Revised:1June2011/Accepted:7June2011/Publishedonline:6December2011
#SSIEMandSpringer-VerlagBerlinHeidelberg2011
Abstract Fabrydisease,anX-linkedlysosomalstoragedis- Introduction
order, is caused by the deficiency of the alpha-galactosidase
A enzyme and the progressive accumulation of globotriao- Fabry disease is an X-linked genetic disorder caused by a
sylceramideinvascularendothelialcells.Themulti-systemic deficiency of the lysosomal enzyme alpha-galactosidase A.
manifestations of Fabry disease include cardiac, gastrointes- TheGLAgeneistheonlyknowngenetobeassociatedwith
tinal, renal, and neuropathic complications. Renal dysfunc- Fabrydisease.Deficiencyofalpha-galactosidaseAleadsto
tion and ultimately end-stage renal disease occurs in progressive accumulation of glycosphingolipids, predomi-
classically affected males and in about 10–15% of female nantly globotriaosylceramide, in vascular beds throughout
heterozygotes from classically affected families as a result the body. Progressive lysosomal deposition of globotriao-
of progressive glycosphingolipid accumulation. We report sylceramide inthevascularendotheliumultimatelyleadsto
a case in which a female with a de novo GLA mutation clinically significant disease, affecting the cardiovascular
donated a kidney to her sister prior to the diagnosis of system, kidneys, skin, gastrointestinal system, and neuro-
symptomatic Fabry disease. The transplant recipient has logical system (Zarate and Hopkin 2008). The most severe
progressed to graft failure and has been relisted for clinical manifestations of Fabry disease include cardiomy-
transplant. This case report demonstrates the need to screen opathy, stroke, and progressive renal insufficiency leading
potential kidney transplant donors and recipients for Fabry to end-stage renal disease (ESRD). Patients with Fabry
disease. disease may present with gastrointestinal symptoms, such
as diarrhea, abdominal pain, and bloating, as well as
Abbreviations neurological symptoms such as acroparathesias, heat or
ESRD End-stage renal disease cold intolerance, tinnitus, hearing loss, and hypohidrosis.
Cardiovascular evaluation may reveal electrocardiographic
abnormalities, valvular disease, and left ventricular hyper-
Communicatedby:RobertJDesnick. trophy. Angiokeratomas, especially around the umbilicus
Competinginterests:Nonedeclared. and inguinal area, may also be present.
Manifestation of Fabry disease is often more severe in
L.S.Paull
Children’sNationalMedicalCenter,Washington,DC20010, men due to the very low residual function of alpha-
USA galactosidase A. Affected women may have later onset of
disease due to random X-inactivation or Lyonization
M.J.Lipinski
causing variable expression of alpha-galactosidase A.
DepartmentofMedicine,UniversityofVirginiaHealthSystem,
Interestingly, Fabry disease in women has been recognized
Charlottesville,VA,USA
tocausefrequentmajororganinvolvement(Ojoetal.2000;
:
W.G.Wilson S.E.Lipinski(*) Thadhani et al. 2002; Wilcox et al. 2008) and to benefit
DepartmentofPediatrics,DivisionofMedicalGenetics,
from enzyme replacement therapy (Whybra et al. 2009).
UniversityofVirginiaHealthSystem,P.O.Box800386,
Activity levels of alpha-galactosidase A can be diagnostic
Charlottesville,VA22908-0386,USA
e-mail:[email protected] for males but mutation testing should be performed in
2 JIMDReports
females to confirm heterozygous status, since enzyme uncomplicated cystitis. Her history was negative for any
activity measurements may vary (Linthorst et al. 2005). prior cardiovascular or cerebrovascular events. Aside from
While Fabry disease was initially thought to be rare kidney donation, her surgical history is only significant for
(~1:40,000), recent studies suggest that milder forms of tonsillectomy at the age of 7 and right ovarian cystectomy
the disease that present later in life and primarily affect the at the age of 22. The patient has no known allergies and
cardiovascular, cerebrovascular, or renal system may be was not on any other medications. She is married and
more common and may be underdiagnosed. This is high- has no children. Her review of systems was positive for
lighted by a recent newborn screening study in Italy that occasionalpaininherfingersandtoesthatshedescribedas
demonstrated an incidence of Fabry disease as high as a “pricking” feeling. She reported normal sweating and
1:3,100 (Spada et al. 2006). denied heat or cold intolerance. She admits to fatigue but
ESRDremainsamajor causeofmorbidityandmortality attributedthistoheroccupation.Sheadmitstonightsweats
in this population and management of patients with Fabry thatshebelievesarerelatedtotheonsetofmenopause.She
disease prior to and following transplantation can be has tinnitus in her right ear but denies hearing loss. She
challenging. Enzyme replacement therapy has been shown denied any gastrointestinal symptoms. Physical examina-
to provide both renal and cardiovascular benefit in patients tion was unremarkable and negative for angiokeratomas.
with Fabry disease (Banikazemi et al. 2007; Eng et al. Enzyme and molecular testing confirmed the diagnosis
2001) and potentially provides a means to halt the of Fabry disease and revealed that the patient carries a
progressive kidney disease in this population. Although c.952delGmutation in the GLA gene (MountSinai Genetic
Fabrydiseaseandother hereditarynephropathiesshouldbe Testing Laboratory). Her alpha-galactosidase A activity
considered prior to kidney transplantation (Niaudet 2010), level was decreased at 8.04 nmol/h/mg (normal range
there is only a formal protocol to screen for autosomal 12.8–74.1) in leukocytes and 2.00 nmol/h/ml (normal
dominant polycystic kidney disease and Alport’s syndrome range 6.2–18.6) in plasma (Mount Sinai Genetic Testing
in living donors (Kasiske et al. 1996). Deceased donor Laboratory).
screeningforFabrydiseasemainlyreliesonmedicalhistory Two months following our evaluation, the patient was
and assessment of laboratory measures of kidney function. hospitalized for left-sided facial weakness and upper
While patients have previously received transplantation extremity tingling. An MRI of the brain demonstrated no
of a kidney from patients with Fabry disease (Kochar et al. evidence of acute cerebral infarct, but there were chronic
2011; Popli et al. 1987; Puliyanda et al. 2003; Schweitzer ischemic changes within the deep white matter and
et al. 1992), we describe the case of a female with periventricular region, particularly more prominent in the
symptomatic de novo Fabry disease that was identified bilateral temporal and occipital region. A transthoracic
years after donation of a kidney to her sister. echocardiogram demonstrated moderate left ventricular
hypertrophy, along with papillary muscle hypertrophy, a
left ventricular ejection fraction of 70% without wall
Patient History motion abnormalities, and mild mitral regurgitation. Car-
diac MRI demonstrated moderate left ventricular hypertro-
We present the case of a 44-year-old Caucasian female phy with an anterior wall thickness of 1.3 cm, a posterior
referred to our Genetics Clinic for evaluation of Fabry wall thickness of 1.2cm, aseptalwall thickness of 1.3cm,
disease after the discovery of bilateral corneal whorling and a lateral wall thickness of 1.2 cm. There was no
during routine ophthalmologic examination. Exposure to evidence of delayed contrast enhancement on T1 weighted
medications that can induce corneal opacities such as imaging, suggesting the absence of myocardial fibrosis or
amiodarone, chloroquine, indomethacin, or phenothiazine deposition.Serumcreatinineand24-hurinecreatininewere
was ruled out. At 34 years of age, she donated a kidney to within normal limits but LDL cholesterol was elevated at
her younger sister who had developed ESRD secondary 141 mg/dl. She was treated with aspirin, an angiotensin-
to Type 1 diabetes mellitus. The patient’s workup prior to converting enzyme inhibitor, a beta-blocker, and a statin.
the kidney donation demonstrated a normal electrocardio- Thepatient’syoungersisterisa39-year-oldfemalewith
gram,normalpulmonaryfunctiontests,anormalcomputed ahistoryof TypeIdiabetesmellitusdiagnosedattheageof5.
tomography angiogram with normal renal vasculature, and By29yearsofage,thissisterhadprogressedtoESRD.She
normal laboratory values at the time of kidney donation, initiated hemodialysis and later underwent a living-donor
with no proteinuria. Her past medical history was signifi- kidney transplant, receiving her older sister’s kidney. She
cant for mild intermittent asthma treated with a bronchodi- underwentpancreatictransplantayearlater.Sincethattime,
lator as needed, allergic rhinosinusitis treated with daily herkidneytransplanthasfailedandsheiscurrentlyrelisted
loratadineandpseudoephedrine,andthreepriorepisodesof forrenaltransplant.Shehasasurgicalhistoryalsosignificant