Fabry disease: a case report
Keywords:Fabry disease, angiokeratomacorporis diffusum, a-galactosidase A activity.
Fabry disease is a rare X-linked recessive inborn error of metabolism due to deficient activity of the lysosomal enzyme, a-galactosidase A (a-Gal A). This results in the tissue accumulation of uncleaved glycosphingolipids within vascular endothelial lysosomes of various organs including skin, heart, kidneys and brain. We report a case of Fabry disease, in an 18-year-old boy, who presented with unilateral leg swelling and angiokeratoma corporis diffusum.
Birdem Med J 2021; 11(2): 145-147