Abstract
Background. Fabry disease is an inherited X-linked disorder of α-galactosidase deficiency that results in the accumulation of globotriaosylceramide and related neutral glycosphingolipids and may cause a wide range of symptoms affecting multiple systems. We aimed to provide a narrative literature overview of Fabry disease, with a clinical case presentation. Materials and methods. We provided a comprehensive clinical, neurological, laboratory, and instrumental analysis of Fabry disease in a young white adult admitted to the Regional Clinical Center of Neurosurgery and Neurology (Uzhhorod, Ukraine). Results and conclusions. We have presented a brief literature overview of the disease, supported with a clinical case of classic Fabry disease in a young white resident of Transcarpathia.
Highlights
Lysosomal storage disorders are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure [1]
The purpose of the study: we aimed to provide a narrative literature overview of Fabry disease with a clinical case presentation
Lysosomal storage diseases are a group of nearly 60 inherited disorders characterized by inappropriate lipid accumulation in lysosomes due to specific enzyme deficiencies
Summary
Lysosomal storage disorders are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure [1]. Fabry disease is a rare X-linked deficiency of α-galactosidase activity in lysosomes that results in the accumulation of globotriaosylceramide and related neutral glycosphingolipids [2]. This article presents a brief literature overview of the disease with a clinical case of classic Fabry disease in a resident of Transcarpathia (Ukraine). Fabry disease is an inherited X-linked disorder of α-galactosidase deficiency that results in the accumulation of globotriaosylceramide and related neutral glycosphingolipids and may cause a wide range of symptoms affecting multiple systems. We aimed to provide a narrative literature overview of Fabry disease, with a clinical case presentation. We have presented a brief literature overview of the disease, supported with a clinical case of classic Fabry disease in a young white resident of Transcarpathia.
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