With More Than 1,000 Variants, Classifying Fabry Can Be Challenging

Fabry disease (FD) is a genetic condition caused by variants in the GLA gene. This gene instructs the body to produce the alpha-galactosidase A (alpha-Gal A) enzyme, which is necessary for the body to function properly. Low or absent alpha-Gal A enzyme activity can cause a toxic buildup…

Investigators Discover New GLA Mutation Likely Associated With Fabry Disease, Case Report Shows

Korean investigators have discovered a new mutation in the GLA gene — located on the X chromosome — that is likely associated both with Fabry disease and heart disease, according to a case report study. Titled “Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough…