FabrydiseaseisararegeneticdisordercausedbymutationsintheGLAgene,leadingtoadeficiencyoftheenzymealpha-galactosidaseA(α-GalA).Thisdeficiencyresultsintheaccumulationofglobotriaosylceramide(Gb3)andrelatedglycosphingolipidsinvarioustissues,causingprogressiveorgandamage.TheprimarydiagnosticmarkerforFabrydiseaseisthemeasurementofα-GalAenzymeactivityinblood(leukocytesorplasma),whichissignificantlyreducedinaffectedindividuals.Forfemalesandatypicalcases,genetictestingtoidentifyGLAgenemutationsisessentialduetovariableenzymeactivity.AdditionalbiomarkersincludeelevatedlevelsofGb3anditsderivative,lyso-Gb3,inplasmaorurine,whichaidindiagnosisandmonitoringdiseaseprogression.Earlyandaccuratediagnosisiscrucialforinitiatingenzymereplacementtherapy(ERT)orothertreatmentstomanagesymptomsandpreventcomplications.
