Modern ideas about the clinic, diagnosis and therapy of Fabry disease

The focus of the article is Fabry disease - a rare enough hereditary pathology. The authors present the most up-to-date epidemiological data and features of Fabry disease etiopathogenesis. The offer clinical characteristics of the various types of this disease. The role of enzyme α-galactosidase A and biomarker globotriaosylsphingosine in Fabry disease is describes in detail. The key stages of the biochemical and molecular genetic search in the diagnosis of this pathology are outlined and indicated, the modern possibilities of therapy are described.