Fabry Disease Symptoms Causes Diagnosis Treatment
Fabry disease is considered a lysosomal storage disease and also a sphingolipidosis (a disorder classified by the body’s harmful accumulation of lipids). It is passed down through the X chromosome. The disease was first reported in 1898 by Drs. William Anderson and Johann Fabry, and is also known as “alpha-galactosidase A deficiency,” in reference to the lysosomal enzyme that is rendered ineffective by mutations. Since the condition is rare, a simple suspicion that an individual is suffering from it can lead to diagnostic tests and, in turn, a diagnosis....