Fabry Disease Fabry’s disease FD is a genetic, lysosomal storage disorder caused by total or partial alpha-galactosidase (α-Gal A) deficiency of the enzyme that degrades glycolipid globotriaosylceramide (Gb3) in lysosomes. Therefore Gb3 deposits accumulate in the endothelial cells and heart, resulting in organic dysfunction. The gene that causes FD is located in the long arm of the X chromosome (locus Xq22) and currently hundreds of pathogenic mutations have been described. Thus, male homozygous patients develop the classic disease, while female […]
