Fabry disease can lead to problems at home, school, work, and everyday life. The disorder affects your whole body and can cause intense bouts of pain, a skin rash, and progressive loss of vision, hearing, and kidney functions. Your journey can be overwhelming and difficult to explain. A metaphor…
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…
Fabry disease is a rare genetic disorder caused by mutations in a gene called GLA. This gene provides cells with the instructions necessary to make the alpha-galactosidase A enzyme. Without this enzyme, fatty substances called sphingolipids cannot be broken down and build up in tissues, leading…
Fabry disease is a rare genetic disease that results from abnormal buildup of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells and tissues. Gb3 accumulation can cause a wide range of symptoms, which can pose problems for travelers who have the disease. Here are some tips…
Fabry disease is a rare genetic disease in which mutations in the GLA gene lead to the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) in cells and tissues. Fabry disease affects multiple organs, and many patients experience Fabry crises, intense episodes…
Fabry disease is a rare genetic disorder characterized by the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells. Its symptoms, such as muscle weakness, kidney dysfunction, heart disease, Fabry crises, and various skin and eye problems, can be quite…
Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene. These mutations result in deficient amounts of an enzyme called alpha-galactosidase A being produced that, in turn, causes a type of fat called globotriaosylceramide (Gb3 or GL-3) to accumulate inside cells. An…
Fabry disease is a rare genetic disease that occurs as a result of a mutation in the GLA gene. This leads to a deficiency in the production of an enzyme called alpha-galactosidase A, due to the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) in…
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