[Fabry disease]

Abstract

Fabry disease is a rare genetic disorder, which is linked to a defect of alfa-galactosidase. In consequence it leads to an excess of glicosphyngolipids in lysosomes of various tissues and organs. Clinical symptoms are related to heart, skin, kidneys and nervous system. Nowadays due to a possibility of substitution of galactosidase A, a influence on clinical course of the disease can be attained: arresting of progression and avoidance of complications.