FABRY disease

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.法布里病（Fabry disease）由位于X染色体上的α-半乳糖苷酶A（α-galactosidase A，GLA）基因突变引发，可导致α-半乳糖苷酶A（α-GAL A）酶缺乏，进而引发球三糖基神经酰胺（globotriaosylceramide，Gb3）这类糖鞘脂的细胞内蓄积。该病可造成多器官功能障碍，尤其会累及肾脏、心脏以及中枢与外周神经系统。