ГоловнаArchive of numbers2022Volume 30, issue 1 (110)Fabry disease in the practice of a neurologist
Title of the article Fabry disease in the practice of a neurologist
Authors Mishchenko Vladyslav
Mishchenko Valeriia
In the section MECHANISMS OF FORMATION AND MODERN PRINCIPLES OF TREATMENT OF NEUROLOGICAL DISORDERS
Year 2022 Issue Volume 30, issue 1 (110) Pages 32-37
Type of article Scientific article Index UDK 616.8-056.7:575.191-085.2/.3 Index BBK -
Abstract DOI: https://doi.org/10.36927/2079-0325-V30-is1-2022-5

 Fabry disease (FD) is a rare lysosomal storage disease caused by mutations in the GLA gene that results in deficient α-galactosidase A (α-Gal A) activity and is inherited in an X-linked manner. A decrease or complete absence of the activity of the a-Gal A enzyme causes a progressive accumulation of glycosphingolipids in the cells of the body. Due to progression of the disease, there is a rapid damage to the internal organs (especially kidneys and heart) and the brain, that is a common cause of premature death in a person with FD. The earliest possible detection of FD and timely treatment is the key to reducing the risk of severe and lifethreatening complications. Worldwide, the gold standard of care for patients with FD is enzyme replacement therapy (ERT) in combination with symptomatic therapy. One of ERT remedy for FD is beta-agalsidase (Fabrazyme®). Fabrazyme® is produced by Sanofi and approved in many countries around the world. With the advent of ERT, the quality of life of patients with FD has significantly improved and the frequency of premature death among these patients has decreased.
Key words rare diseases, Fabry disease, stroke, neuropathic pain
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