Fabry disease

Fabry disease: A genetic disease due to deficiency of an enzyme called alpha-galactosidase A. This enzyme is essential to the metabolism of molecules known as glycosphingolipids. Without the enzyme, glycosphingolipids accumulate in the kidneys, heart, nerves and throughout the body. Males with Fabry disease are more severely affected than females since the gene for Fabry disease is on the X chromosome. Males have only one X while females have a second X and therefore some enzyme activity.