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AnintroductiontoGalactosialidosis,anultra rareGlycoproteinDisorder
Galactosialidosisisarareglycoproteinstoragediseasecausedbyachangeinthe CTSAgene.
Butwhatdoesthismean?
TheCTSAgeneprovidesinstructionstoproduceanenzymecalled cathepsinAinourbodies.Workingalongsidetwootherenzymes, cathepsinAbreaksdowncertainsugars,proteins,andfatswithin lysosomes.Lysosomeshavearangeofimportantfunctionsfrom breakingdownworn-outcellstohelpingprotectourbodiesfrom virusesandbacteria.
ThechangetotheCTSAgenemeanssomeonewithgalactosialidosisdoesn’t produceenoughcathepsinA,whichleadstoabuild-upofcertainsubstanceswithin thelysosomesincludingglycoproteinsandglycolipids.Inturn,thisaccumulation canaffectmultipleorgansandtissuesinthebody,resultinginawiderangeof symptomsacrossthreedifferentformsofgalactosialidosis.
Thosewiththeearly infantileformareusually diagnosedbetweenbirth and3monthsold.Infants withthisformusuallylive intolateinfancy.
Symptomsmayinclude: extensiveswelling,asoft outpouchinginthelower abdomen,anenlarged liverorspleen,abnormal bonedevelopment, enlargedheart,kidney disease,eyeabnormality, distinctivefacialfeatures.
Thosewithlateinfantile formusuallydevelop symptomswithinthefirst yearoftheirlife.Life expectancycanvary dependingontheseverity ofsymptoms
Symptomsmayinclude: Shortstature,heartvalve problems,hearingloss, eyeabnormality, intellectualdisability, distinctivefacialfeatures.
Theageatwhich symptomsofthisform begintodevelopcan vary,buttheaverageis16 yearsold.Thosewiththis formusuallyhavea normallifeexpectancy.
Symptomsmayinclude: Ataxiaandmuscle twitches,seizures,vision andhearingloss,eye abnormality, abnormalitiesinthe bonesofthespine,dark redspotsontheskin, progressiveintellectual disability,distinctive facialfeatures.
AnintroductiontoGalactosialidosis,anultra rareGlycoproteinDisorder
Galactosialidosisisdiagnosedthroughacombinationofclinicalevaluation,genetic testing,andenzymeactivityassayswhichmeasuretheactivityofyourenzymes.The prevalenceiscurrentlyunknownbutmorethan100instancesofgalactosialidosis have beenreportedsofar.Anestimated60%ofpeoplewiththeconditionhavethe juvenile/adultform;mostofwhichareofJapanesedescent.
Thereisnotreatmentforgalactosialidosisatthemoment.Instead,careis focusedontreatingthespecificsymptomsoftheindividual,suchas takingmedicationstocontrolseizures,tohelpimprovequalityoflife.
Lifeexpectancycurrentlyvariesbetween,andwithin,thethreeforms.
TheGeneticsofGalactosialidosis
Galactosialidosisisaninheritedautosomal recessivecondition.
ThismeansthechangedCTSAgenemustbe inheritedfrombothparentsforthechildtobe affectedbygalactosialidosis.
Ifbothparentsarecarriersof galactosialidosis(andsohaveonechanged CTSAgenethemselves)there’s:
50%chancethechildwillalsobeacarrier, 25%theywillhavetwoworkinggenesand beunaffected,and 25%ofdevelopinggalactosialidosis.
ThisinformationiseditedfromtheTEMPLEGuideswhichhavebeenadaptedbytheDietitiansGroupoftheBritishInheritedMetabolic DiseaseGroup(BIMDG)andisbasedontheoriginalTEMPLEwrittenbyBurgardandWendel TheTEMPLEGuidesaresupportedbyNutricia
Whilstthereisnocurrenttreatment,TheGalactosialidosisNetworkare
ÇağdaşandCinarCanbolatwelcomed theirbeautifulbabygirlClaraLorinonthe 30thofJune2021.
At17monthsold,Clarawasdiagnosedwith theultra-rareinheritedmetaboliccondition, galactosialidosis.
Followingherdiagnosis,Clarabattledchronic kidneydiseaseandnarrowlysurvivedaheart attackwhereherheartstoppedforeleven minutes.Sherecoveredwellbutbecame reliantondialysisfourormoredaysaweek whilstsheawaitedakidneytransplant.
Clarawasn’ttheonlyonefighting.Herfamily turnedtheirimmenseeffortsandcaretowards supportingtheirdaughterandotherswiththe ultra-rarecondition.Herfatherjoinedthe boardofISMRD(theInternationalSocietyfor Mannosidosis&RelatedDisease)toensure internationalcollaborationandtheyfounded theGalactosialidosisNetwork;bringing togetherthoseaffectedbythecondition, compilinginformationandresearch,and lobbyingforchange,development,anda spotlightontheconditionthatchangedtheir lives.
ClarapassedawayonMarch6th,2024,atjust twoandahalfyearsold.Shewillliveoninher family’smemoryandtheircontinuedsupport forthegalactosialidosiscommunity.We,too, arehonouredtobeapartofClara’smemory.
ThankyoutoClara’sfamily,friends,and communityfortheirdonationstousin Clara’snameandmemory.Togetherthey raisedover£24,500(inclusiveofgiftaid).
MeetTheInternationalAdvocateforGlycoprotein StorageDiseasesinthisarticlefromtheirpresident
Doyouorafamilymemberhaveoneofthefollowing?
Alpha-Mannosidosis Aspartylglucosaminuria(AGU)
Beta-Mannosidosis
Fucosidosis
Galactosialidosis
Sialidosis
SchindlerDisease
Pleasecontactusatinfo@ismrd.org.Weoffersupport,informationandconnectionwithother similarlyaffectedfamilies.Wealsoworkforresearchandtreatmentsforeachofthesediseases.
TheInternationalSocietyforMannosidosisandRelatedDiseases(ISMRD)istheInternational AdvocateforGlycoproteinStorageDiseasesgovernedbyaBoardofDirectorswhoarefamily membersfromaroundtheworldandaProfessionalAdvisoryBoardwhoaremembersofthe internationalscientificandmedicalcommunity.ISMRDhasbeenoperatingfor25yearsand membershipisfree.
OurMission
Throughpartnershipsbuiltwithmedicine, scienceandindustry,weseektodetect andcurethesediseases,andtoprovidea globalnetworkofsupportandinformation.
OurVision
Weseekafutureinwhichchildrenwith GlycoproteinStorageDiseasescanbe detectedearly,treatedeffectively,andgo ontolivelong,healthyandproductivelives.
ISMRDisassistingwiththedisseminationofLamzede,anon-centralnervoussystemenzyme replacementtherapyforAlpha-Mannosidosisadultsandchildren,thatwasapprovedforuse intheUSin2023.WearealsoworkingontreatmentsforBeta-Mannosidosis,Fucosidosisand Galactosialidosis,andfundingresearchintoAlpha-MannosidosisandMucolipidosis.
ISMRDhasprovidedpatienttestimonythathasresultedinapprovalforuseofpreimplantation genetictestingformonogenicdisorders(PGT-M)intheUK,forbothSialidosisandFucosidosis. ThismeansthatSialidosisandFucosidosisfamiliesintheUKcanhaveadditionalchildren withoutfearofthembeingaffected.Wehaveheldsixinternational conferencesandwillbeholdingour7thInternationalFamilyand ScientificConference7-10August2025inMinneapolis,Minnesota,USA. Withwarmregards, CarolynPaisley-Dew, ISMRDPresident
Youarealwayswelcometoreachouttotheteam atMetabolicSupportUK,inawaythatsuitsyou.You cancallourfreephonehelplineMonday-Friday,10am-4pm, fillinthecontactformonourwebsite,orsendusanemail.
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