Abstract
Anderson-Fabry disease is a progressive systemic lysosomal disease bound to X chromosome. The cause of the disease is a defect in the gene encoding the enzyme alpha - galactosidase, which is located in Xq22.
The defect leads to intralysosomal accumulating substrates of this enzyme, particularly globotriaosylceramide at many tissues, especially in the endothelium and vascular smooth muscle cells, in various types of cells of the kidney, heart muscle, CNS, gastrointestinal tract, and others.