Fabry disease: a case report
DOI:
https://doi.org/10.3329/birdem.v11i2.53138Keywords:
Fabry disease, angiokeratomacorporis diffusum, a-galactosidase A activity.Abstract
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
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