Diagnosing Fabry Disease

Dr. William Burns is a biochemical geneticist at Greenwood Genetic Center in Greenwood, South Carolina. Dr. Burns provides an overview of Fabry disease, including challenges of diagnosis. Fabry disease is a lysosomal storage disorder, meaning that a glycosphingolipid called GL-3 accumulates in the lysosomes, causing tissue damage; many cell types are affected. The disease is caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A, a lysosomal enzyme. The mutations can be inherited, so multiple family members can have the disease. Fabry disease is a multisystemic disease, affecting many organs, including the heart, kidney and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition. Newborn screening has now been performed in several countries, yielding a prevalence ranging from 1 in 1,368 to 1 in 8,882 births.