Medizinische Universität Graz - Research portal
Selected Publication:
Regenstein, G.
Endothelial dysfunction in Fabry disease
Humanmedizin; [ Diplomarbeit ] Medizinische Universität Graz; 2025. pp. 81
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- Authors Med Uni Graz:
- Advisor:
- Schlagenhauf Axel
- Tokic Silvija
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- Abstract:
- Introduction: Fabry disease (FD) is a rare lysosomal storage disorder caused by pathogenic variants in the GLA-gene, which encodes the enzyme alpha-Galactosidase (AGAL), required for degradation of globotriaosylceramid (Gb3). Deficiency of AGAL results in Gb3 accumulation in various cells and tissues. Endothelial cells are commonly affected, and their impairment leads to endothelial dysfunction (ED). Although men usually present with more severe symptoms sue to, X-linked inheritance, women can also present with serious manifestations, despite showing less Gb3 accumulation. Patients under enzyme replacement therapy (ERT) may still develop ED-related symptoms. Therefore, ED in FD might not solely be related to Gb3 storage, and other influences need to be elucidated.