Fabry's disease in the practice of a neurologist
https://doi.org/10.30629/2658-7947-2025-30-6-40-46
Abstract
This article describes a clinical case of Fabry disease (FD). This condition is associated with a defi ciency of the α-galactosidase A enzyme due to a mutation in the GLA gene, which leads to the accumulation of glycosphingolipids (Gb3 and Lyso-Gb3) in cells of the kidneys, heart, nervous system, and other organs. FD is inherited in an X-linked dominant pattern with incomplete penetrance in females. The average time from symptom onset to diagnosis reaches 20 years in the Russian Federation. Early diagnosis of FD is complicated by the diversity and nonspecifi city of its manifestations, including cerebrovascular accidents in young patients, as observed in this case.
Keywords
Supporting agencies: The study had no sponsorship
About the Authors
M. V. Zykov
Kuban State Medical University; City Hospital No. 4 of Sochi
Russian Federation
Russian Federation
Krasnodar; Sochi
I. V. Velbik
City Hospital No. 4 of Sochi
Russian Federation
Russian Federation
Sochi
D. S. Zykova
City Hospital No. 4 of Sochi
Russian Federation
Russian Federation
Sochi
V. L. Cherkashin
Russian Center for Neurology and Neurosciences
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Zykov M.V., Velbik I.V., Zykova D.S., Cherkashin V.L. Fabry's disease in the practice of a neurologist. Russian neurological journal. 2025;30(6):40-46. (In Russ.) https://doi.org/10.30629/2658-7947-2025-30-6-40-46
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