Publication at First Faculty of Medicine |
2022
Abstract
Fabry disease is a rare lysosomal storage disorder leading to glycosphingolipid accumulation in most of tissues. Its singns and symptoms are quite distinctive, particulary in childhood.
It is possible and so imperative to detect the disease at young age and start the enzyme replacement therapy to decrease the risk of late complication development in adulthood. The article offers a brief description of the disease and an illustrative case report of 12-years-old boy.