Enzyme replacement therapy (ERT), such as Fabrazyme, addresses the primary cause of Fabry disease — mutations in the GLA gene that lead to the lack of alpha-galactosidase A enzyme, which is needed to break down a type of fat called globotriaosylceramide (Gb3 or GL-3). A deficiency…
Heart disease is common in Fabry disease patients, and those with the disease should be vigilant about taking steps to optimize their cardiac care. Fabry disease…
Kidney problems are common in people with Fabry disease. They are caused by the deposition of certain fatty molecules, known as globotriaosylceramide (Gb3 or GL-3), that accumulate inside cells due to a lack of the enzyme alpha-galactosidase A. If not attended to, kidney problems can progress to kidney failure.
Fabry disease is a rare X-linked genetic disorder characterized by the inability of the body to break down a type of fat called globotriaosylceramide (Gb3 or GL-3) due to deficiency of the alpha-galactosidase A enzyme. Sweating abnormalities such as anhidrosis (decreased sweating) and hyperhidrosis…
Fabry disease is a rare X-linked genetic disease characterized by the buildup of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells, resulting in a variety of symptoms that can be life-threatening. Fabry disease patients often experience gastrointestinal (GI) symptoms such as cramps in…
Fabry disease is a rare genetic disease characterized by the buildup of a type of fat called globotriaosylceramide (Gb3 or GL-3). This Gb3 buildup in the cells and tissues of the body causes a variety of symptoms that can be life-threatening. Many Fabry disease patients experience Fabry…
Fabry disease is a rare genetic disorder characterized by the body’s inability to break down a type of fat called globotriaosylceramide (Gb3 or GL-3). This is due to a deficiency of the alpha-galactosidase A enzyme. The resulting accumulation of Gb3 in the cells and tissues of the…
When you’re diagnosed with Fabry disease, it’s common to be surprised and frightened about what this means for your quality of life and your life expectancy. Keep in mind that symptoms can largely be kept under control with proper management using available treatment options. Here are…
Fabry disease is a rare genetic disorder that impairs the body’s ability to break down a type of fat called globotriaosylceramide (Gb3 or GL-3), due to the deficiency of an enzyme called alpha-galactosidase A. Accumulation of Gb3 inside cells causes a wide range of symptoms, some of which…
A person with a rare genetic disease, such as Fabry disease, often needs extra help from a caregiver to cope with the challenges of the disease. If you are a caregiver, you are often under stress to meet the needs of the patient or family member that needs your…
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