An expert consensus on the recommendations for the use of biomarkers in Fabry disease

Burlina, Alessandro; Brand, Eva; Hughes, Derralynn; Kantola, Ilkka; Krӓmer, Johannes; Nowak, Albina; Tøndel, Camilla; Wanner, Christoph; Spada, Marco

doi:10.1016/j.ymgme.2023.107585

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Burlina, A., Brand, E., Hughes, D., Kantola, I., Krӓmer, J., Nowak, A., Tøndel, C., Wanner, C., & Spada, M. (2023). An expert consensus on the recommendations for the use of biomarkers in Fabry disease. Molecular Genetics and Metabolism, 139(2), 107585. https://doi.org/10.1016/j.ymgme.2023.107585

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of glycosphingolipids in various tissues and body fluids, leading to progressive organ damage and life-threatening complications. Phenotypic classification is based on disease progression and severity and can be used to predict outcomes. Patients with a classic Fabry phenotype have little to no residual α-Gal A activity and have widespread organ involvement, whereas patients with a later-onset phenotype have residual α-Gal A activity and disease progres