English to Latvian Medical Medical: Pharmaceuticals

Fabry disease is an X-linked lysosomal storage disease that is caused by deficient activity of lysosomal enzyme α -galactosidase A (α -Gal A). Most males with no α -Gal A activity develop the classic phenotype of Fabry disease, which affects multiple organ systems. The first clinical manifestations of the disease, which consist of episodes of severe pain in the extremities (acroparesthesias), hypohidrosis, corneal and lenticular changes, and skin lesions (angiokeratoma) develop in childhood.