Most patients with Fabry disease reported decreased physical and mental health-related quality of life ... (59%) followed by cornea verticillate (56%), reduced hearing (50%), small fibre ...

Fabry disease is characterized by a buildup of the fatty lipid Gb3, which can cause gastrointestinal issues, kidney failure, stroke, chronic pain, and dangerous heart abnormalities.

For Fabry disease, sharing information and learnings can help address any misconceptions, such as it only impacts men. In the past, the medical community believed women could not have X-linked ...

In people with Fabry disease, a specific enzyme called alpha-galactosidase A (alpha-gal) does not work the way that it should. This is because there is a mutation in the gene that codes for alpha-gal.

(BPT) – Living with a rare disease may not be as rare as you would think: Affecting one in 10 Americans, there are more than 10,000 known rare diseases in the U.S. 1 While significant strides to ...