LABORATORY MARKERS OF ANDERSON-FABRY DISEASE

• DOI: 10.62151/2786-9288.2.4.2024.04
• Publication Date: 2025-01-08T15:45:12Z
• Authors: O.Y. Buchko; V.M. Akimova

The article highlights the key aspects of Anderson-Fabry disease, a rare genetic disorder characterized by lipid accumulation in cells due to a deficiency of the enzyme α-galactosidase A. The study provides a detailed review of the history, primary causes, and pathogenetic mechanisms of the disease. It describes various internal organ damages associated with the pathology. Special attention is given to laboratory markers of the disease, such as Lyso-Gb3, Gb3, and other indicators, which play a critical role in the diagnosis and monitoring of the condition. Modern genetic and instrumental diagnostic methods, as well as the main treatment approaches, are also discussed.