SCREENING FOR FABRY DISEASE IN HIGH-RISK PATIENTS

Abstract

Fabry disease (FD) is a rare X-linked lysosomal storage disorder. The disease is caused by a deficiency or reduced activity of the enzyme alpha-galactosidase A (α-Gal A) due to mutations in the GLA gene, leading to the progressive accumulation of the glycosphingolipid globotriaosylceramide (Gb3/GL-3) and its derivative – globotriaosylsphingosine (Lyso-Gb3/ Lyso-GL-3) – in various tissues and organs. Lyso-GL-3 is considered a distinctive biomarker for this disease. The text describes the identification of Fabry disease through testing the enzymatic activity of α-Gal A and the levels of Lyso-GL-3, followed by genetic analysis in cases of reduced α-Gal A activity and elevated Lyso-GL-3 levels.