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Review

Diagnostic and treatment strategies in mucopolysaccharidosis VI

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Pages 245-255 | Published online: 30 Oct 2015

References

  • MaroteauxPLevequeBMarieJLamyMUne nouvelle dysostose avec elimination urinaire de chondroitine sulfate B [A new dysostosis with urinary elimination of chondroitin sulfate B]Presse Med19637118491852 French14091597
  • NeufeldEMuenzerJThe mucopolysaccharidosisScriverCBeandetASlySThe metabolic and molecular basis of inherited diseaseNew YorkMcGraw-Hill200134213452
  • GiuglianiRHarmatzPWraithJEManagement guidelines for mucopolysaccharidosis VIPediatrics2007120240541817671068
  • Costa-MottaFMBenderFAcostaAA community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinityHum Hered2014771–418919625060283
  • ValayannopoulosVNicelyHHarmatzPTurbevilleSMucopolysaccharidosis VIOrphanet J Rare Dis20105520385007
  • PoorthuisBJWeversRAKleijerWJThe frequency of lysosomal storage diseases in The NetherlandsHum Genet19991051–215115610480370
  • MeiklePJHopwoodJJClagueAECareyWFPrevalence of lysosomal storage disordersJAMA199928132492549918480
  • NelsonJCrowhurstJCareyBGreedLIncidence of the mucopolysaccharidoses in Western AustraliaAm J Med Genet A2003123A331031314608657
  • PintoRCaseiroCLemosMPrevalence of lysosomal storage diseases in PortugalEur J Hum Genet2004122879214685153
  • BaehnerFSchmiedeskampCKrummenauerFCumulative incidence rates of the mucopolysaccharidoses in GermanyJ Inherit Metab Dis20052861011101716435194
  • MalmGLundAMManssonJEHeibergAMucopolysaccharidoses in the Scandinavian countries: incidence and prevalenceActa Paediatr200897111577158118681890
  • Ben TurkiaHTebibNAzzouzHIncidence of mucopolysaccharidoses in TunisiaTunis Med2009871178278520209839
  • LinHYLinSPChuangCKIncidence of the mucopolysaccharidoses in Taiwan, 1984–2004Am J Med Genet A2009149A596096419396827
  • PoupetováHLedvinováJBernáLDvorákováLKozichVEllederMThe birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populationsJ Inherit Metab Dis201033438739620490927
  • MoammarHCheriyanGMathewRAl-SannaaNIncidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983–2008Ann Saudi Med201030427127720622343
  • KrabbiKJoostKZordaniaRThe live-birth prevalence of mucopolysaccharidoses in EstoniaGenet Test Mol Biomarkers201216884684922480138
  • JureckaAŁugowskaAGoldaACzartoryskaBTylki-SzymańskaAPrevalence rates of mucopolysaccharidoses in PolandJ Appl Genet201556220521025472774
  • CoelhoJCWajnerMBurinMGVargasCRGiuglianiRSelective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolismEur J Pediatr199715686506549266201
  • KoseogluSTHarmatzPTurbevilleSNicelyHReversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapyInt Ophthalmol200929426726918418554
  • GomesBDSouza GdaSVianaGMVisual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical PotentialCase Rep Ophthalmol20123110411222548043
  • Cardoso-SantosAAzevedoACFagondesSBurinMGGiuglianiRSchwartzIVMucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strengthJ Pediatr (Rio J)200884213013518338089
  • ArslanNMaviAKalkanSFindings of hepatobiliary scintigraphy and liver biopsy in Maroteaux-Lamy syndrome presenting as neonatal cholestasisPediatr Int200648549850016970791
  • SwiedlerSJBeckMBajboujMThreshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Am J Med Genet A2005134A214415015690405
  • ThumlerAMiebachELampeCClinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case seriesJ Inherit Metab Dis20123561071107922441840
  • LitjensTHopwoodJJMucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfataseHum Mutat200118428229511668612
  • AzevedoACSchwartzIVKalakunLClinical and biochemical study of 28 patients with mucopolysaccharidosis type VIClin Genet200466320821315324318
  • PilzHvon FiguraKGoebelHHDeficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B)Ann Neurol197964315325122048
  • PatersonDEHarperGWestonHJMattingleyJMaroteaux-Lamy syndrome, mild form – MPS vibBr J Radiol1982556598058126814560
  • WickerGPrillVBrooksDMucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase BJ Biol Chem19912663221386213911718978
  • de JongJGWeversRALiebrand-van SambeekRMeasuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blueClin Chem19923868038071597005
  • WoodTBodamerOABurinMGExpert recommendations for the laboratory diagnosis of MPS VIMol Genet Metab20121061738222405600
  • GiuglianiRBrusius-FacchinASouzaCDiagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)Expert Opinion on Orphan Drugs20153210
  • KircherSBajboujMBeckMMucopolysaccharidoses: A Guide for Physicians and Parents (Uni-Med Science)UNI-MED Verlag AG2007
  • WhitleyCBDraperKADuttonCMBrownPASeversonSLFranceLADiagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrixClin Chem19893510207420812507197
  • CivalleroGBenderFGomesAReliable detection of mucopolysacchariduria in dried-urine filter paper samplesClin Chim Acta201341533433623178442
  • LampeCBellettatoCMKarabulNScarpaMMucopolysaccharidoses and other lysosomal storage diseasesRheum Dis Clin North Am201339243145523597973
  • Auray-BlaisCBhererPGagnonREfficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VIMol Genet Metab20111021495620934363
  • PetersCSchmidtBRommerskirchWPhylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase BJ Biol Chem19902656337433812303452
  • ModaressiSRuppKvon FiguraKPetersCStructure of the human arylsulfatase B geneBiol Chem Hoppe Seyler199337453273357687847
  • hgmd.cf.ac.uk [homepage on the Internet]The Human Gene Mutation Database Available from: http://www.hgmd.cf.ac.uk/ac/index.phpAccessed September 20, 2015
  • ErlichHAPCR Technology: Principles and applications for DNA amplificationMacmillan Publishers1989
  • SangerFNicklenSCoulsonARDNA sequencing with chain-terminating inhibitorsProc Natl Acad Sci U S A1977741254635467271968
  • Costa-MottaFMAcostaAXAbe-SandesKGenetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast BrazilMol Genet Metab2011104460360721996138
  • JureckaAPiotrowskaECimbalistieneLMolecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and EstoniaMol Genet Metab2012105223724322133300
  • JureckaAZakharovaECimbalistieneLMucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern EuropePediatr Int201456452052524373060
  • SchwartzIVLimaLCTyleeKFurther cases of “neighbor” mutations inmucopolysaccharidosis type IIAm J Med Genet A2006140151684168616770800
  • Brusius-FacchinACDe SouzaCFSchwartzIVSevere phenotype in MPS II patients associated with a large deletion including contiguous genesAm J Med Genet A2012158A51055105922492741
  • WongLJDimmockDGeraghtyMTUtility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletionsClin Chem20085471141114818487280
  • TayehMKChinELMillerVRBeanLJCoffeeBHegdeMTargeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplicationsGenet Med200911423224019282776
  • KrivitWAubourgPShapiroEPetersCBone marrow transplantation for globoid cellleukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndromeCurr Opin Hematol19996637738210546790
  • WangCCHwuWLLinKHLong-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantationWorld J Pediatr20084215215418661775
  • HerskhovitzEYoungERainerJBone marrow transplantation for Maroteaux-Lamysyndrome (MPS VI): long-term follow-upJ Inherit Metab Dis1999221506210070618
  • KrivitWAllogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseasesSpringer Semin Immunopathol2004261–211913215452666
  • GiuglianiRCarvalhoCGHerberSde Camargo PintoLLRecent Advances in Treatment Approaches of Mucopolysaccharidosis VICurr Pharm Biotechnol201112695696221506914
  • RovelliAMThe controversial and changing role of haematopoietic cell transplantation for lysosomal storage disorders: an updateBone Marrow Transplant200841Suppl 2S87S8918545253
  • FullerMHopwoodJJAnsonDSReceptor mediated binding of two glycosylation forms of N-acetylgalactosamine-4-sulphataseBiochim Biophys Acta1998140632832909630676
  • AuclairDHopwoodJJBrooksDALemonttJFCrawleyACReplacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapyMol Genet Metab200378316317412649061
  • YogalingamGCrawleyAHopwoodJJAnsonDSEvaluation of fibroblast-mediated gene therapy in a feline model of mucopolysaccharidosis type VIBiochim Biophys Acta19991453228429610036326
  • BielickiJCrawleyACDaveyRCVarnaiJCHopwoodJJAdvantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VIJ Biol Chem199927451363353634310593925
  • TurnerCTHopwoodJJBondCSBrooksDAImmune response to enzyme replacement therapy: 4-sulfatase epitope reactivity of plasma antibodies from MPS VI catsMol Genet Metab199967319420510381327
  • BrooksDAGibsonGJKarageorgosLHeinLKRobertsonEFHopwoodJJAn index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrumMol Genet Metab200585323623815979036
  • HarmatzPGiuglianiRSchwartzIEnzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension studyJ Pediatr2006148453353916647419
  • HarmatzPEnzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figuresTurk J Pediatr201052544344921434527
  • HarmatzPRGarciaPGuffonNGalsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VIJ Inherit Metab Dis201437227728724108527
  • HarmatzPGiuglianiRSchwartzIVLong-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfataseMol Genet Metab200894446947518502162
  • DeckerCYuZFGiuglianiREnzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseJ Pediatr Rehabil Med2010328910020634905
  • HorovitzDDMagalhaesTSAcostaAEnzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VIMol Genet Metab20131091626923535281
  • HarmatzPKetteridgeDGiuglianiRDirect comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatasePediatrics20051156e681e68915930196
  • HendrikszCJGiuglianiRHarmatzPDesign, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)J Inherit Metab Dis201336237338422127392
  • DoganMCesurYPekerEOnerAFDoganSZThrombocytopenia associated with galsulfase treatmentHum Exp Toxicol201130776877120670992
  • BeginPChapdelaineHLemyreEParadisLDes RochesASuccessful desensitization in a type VI mucopolysaccharidosis patient with probable IgE-mediated allergy to galsulfase [Naglazyme]Ann Allergy Asthma Immunol20131101555623244660
  • Di NatalePVillaniGRPariniRMolecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI diseaseBiotechnol Appl Biochem200849Pt 321922317672828
  • So ankiGAAldenTDBurtonBKA multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VIMol Genet Metab20121071–2152422938833
  • LampeCSchwarzMMuller-ForellWHarmatzPMengelECraniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgeryJ Inherit Metab Dis20133661005101323408180
  • HorovitzDDMagalhaes TdeSPena e CostaASpinal cord compression in young children with type VI mucopolysaccharidosisMol Genet Metab2011104329530021813307
  • AuclairDFinnieJWhiteJRepeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimenMol Genet Metab201099213214119896877
  • Munoz-RojasMVHorovitzDDJardimLBIntrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalisMol Genet Metab201099434635020036175
  • YoshidaMNoguchiJIkadaiHTakahashiMNagaseSArylsulfatase B-deficient mucopolysaccharidosis in ratsJ Clin Invest1993913109911048450039
  • BradburyAMGurdaBLCasalMLPonderKPViteCHHaskinsMEA review of gene therapy in canine and feline models of lysosomal storage disordersHum Gene Ther Clin Dev2015261273725671613
  • SimonaroCMGeYEliyahuEHeXJepsenKJSchuchmanEHInvolvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidosesProc Natl Acad Sci U S A2010107122222720018674
  • EliyahuEWolfsonTGeYJepsenKJSchuchmanEHSimonaroCMAnti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VIPLoS One201168e2244721887218
  • SchuchmanEHGeYLaiAPentosan polysulfate: a novel therapy for the mucopolysaccharidosesPLoS One201381e5445923365668
  • FerlaRO’MalleyTCalcedoRGene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8Hum Gene Ther201324216316923194248
  • PonderKPO’MalleyTMWangPNeonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI catsMol Ther201220589890722395531
  • MuenzerJEarly initiation of enzyme replacement therapy for the mucopolysaccharidosesMol Genet Metab20141112637224388732
  • GelbMHScottCRTurecekFNewborn screening for lysosomal storage diseasesClin Chem201561233534625477536
  • AcostaAXAbe-SandesKGiuglianiRBittlesAHDelivering genetic education and genetic counseling for rare diseases in rural BrazilJ Genet Couns201322683083423338802
  • GiuglianiRLampeCGuffonNNatural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) – 10-year follow-up of patients who previously participated in an MPS VI Survey StudyAm J Med Genet A2014164A81953196424764221
  • McGillJJInwoodACComanDJEnzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control studyClin Genet201077549249819968667
  • PetryMFNonemacherKSebbenJCMucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patientsJ Inherit Metab Dis20052861027103416435196
  • VoskoboevaEKrasnopol’skaiaKDPetersKvon FiguraKIdentification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patientsGenetika200036683784310923267
  • KarageorgosLBrooksDAPollardAMutational analysis of 105 mucopolysaccharidosis type VI patientsHum Mutat200728989790317458871
  • IsbrandtDArltGBrooksDAHopwoodJJvon FiguraKPetersCMucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypesAm J Hum Genet19945434544638116615
  • LitjensTBrooksDAPetersCGibsonGJHopwoodJJIdentification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsAm J Hum Genet1996586112711348651289
  • VillaniGRBalzanoNVitaleDSavianoMPavoneVDi NatalePMaroteauxlamy syndrome: five novel mutations and their structural localizationBiochim Biophys Acta19991453218519210036316
  • YangCFWuJYLinSPTsaiFJMucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutationJ Formos Med Assoc20011001282082311802522