Classic Fabry disease: a clinical case presentation in a resident of Transcarpathia

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.