Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Globotriaosylsphingosine Levels.
Sanne J van der VeenMohamed El SayedCarla E M HollakMarion M BrandsC Khya S SnelderS Matthijs BoekholdtLiffert VogtSusan M I GoordenAndré B P van KuilenburgMirjam LangeveldPublished in: Clinical journal of the American Society of Nephrology : CJASN (2023)
In an individual Fabry disease patient, the plasma lysoGb3 level reached a specific level in early childhood which, in the absence of Fabry specific treatment, remained stable throughout life. The level of lysoGb3 in untreated patients was associated with nearly all Fabry specific disease manifestations, regardless of the sex of the patient.