Prevalence of Fabry disease in Iraq [version 1; peer review: 1 not approved]

Background : Fabry disease occurs due to mutations in the α-galactosidase A (GLA) gene present in the X-chromosome, which results in α-galactosidase A (α-GAL A) enzyme deficiency, leading to the intracellular accumulation of glycosphingolipids like globotriaosylceramide (Gb3). It involves multiorgan dysfunction, particularly affecting kidneys, heart, and central and peripheral nervous system. We intended to evaluate the prevalence of Fabry disease in various regions of Iraq along with the clinical manifestations. Methods: This cross-sectional multi-center study was conducted in Iraq with 1148 patients with variable presentations from January 2018 to June 2022. The demography, patient medical and family history were recorded. Routine clinical investigations were performed along with some specific assessments. Lysosomal α-GAL A enzyme activity was determined using the dried blood spot test followed by tandem mass spectrometry, where values between 200-2000 pmol/spot*20 h were considered normal. Any patient with α-GAL A activity