Emily Malcolm, PhD,  —

Fabry disease is a rare genetic disease characterized by the buildup of a fatty molecule — globotriaosylceramide Gb3 or GL-3 — inside cells, interfering with their function. The accumulation of this molecule can lead to kidney disease, among other problems. The kidneys filter waste…

If you have Fabry disease, you should consider joining the Fabry Registry. Among other benefits, the information you can provide may help scientists develop new treatments for the genetic disorder. About the Fabry Registry The Fabry Registry is the largest international patient registry database dedicated to Fabry…

Fabry disease is a rare genetic disorder that is caused by mutations in the GLA gene. The body uses the instructions that this gene provides to make an enzyme (alpha-galactosidase A) that breaks down fatty substances called globotriaosylceramide (Gb3 or GL-3). Mutations in GLA mean that the enzyme cannot…

Fabry disease is a rare disease characterized by the buildup of a fatty molecule (globotriaosylceramide Gb3 or GL-3) inside cells. This accumulation can lead to complications that include kidney disease. Normally, the kidneys filter wastes from the blood. Gb3 buildup can prevent this clearance, allowing waste…

Genetic mutations that result in the buildup of fatty molecules called globotriaosylceramide (Gb3 or Gl-3) are the cause of Fabry disease. This accumulation damages cells and leads to problems in various tissues, including the eyes. Many of the symptoms of Fabry disease are similar to those of other…

There is currently no cure for Fabry disease, a rare genetic condition characterized by the buildup of a molecule called globotriaosylceramide (Gb3 or Gl-3) within cells. Researchers are working to find potential new treatments for the disease. One way that people with Fabry disease can help in this…

One way to confirm a diagnosis of Fabry disease is through genetic testing. What is genetic testing? Genetic testing is a medical test to determine whether a person has changes in their genes or chromosomes that could be disease causing. Your doctor will discuss with you whether…

If you or a family member has Fabry disease, you might benefit from genetic counseling. What is genetic counseling? Genetic counselors can talk to you about your risk of inheriting or passing on a genetic disease like Fabry. Your primary care physician can help you get in contact…

Fabry disease is a rare genetic disorder caused by a type of fat building up in cells, damaging the heart and kidneys. Vitamin D and Fabry disease The heart problems that Fabry disease causes can make exercise challenging for patients. Combined with an inability to sweat,…

Fabry disease is a rare genetic disease characterized by problems in breaking down a type of fat molecule called globotriaosylceramide (Gb3 or GL-3). Patients have mutations in the GLA gene that provides instructions for making an important enzyme that breaks down these fats. The mutations alter the structure…