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Agalsidase beta for Fabry disease: What is it? How does it work? Who shouldn't take it? Side effects? Efficacy? Evidence? Research studies?

Fabry disease is a rare genetic disease which is caused by a deficiency of a certain enzyme called alpha-galactosidase A (AGA). An AGA deficiency leads to the buildup of a certain type of fat called GL-3 in tissues, which causes a variety of symptoms and can present itself in different ways. Agalsidase beta is an enzyme replacement therapy that is used to treat the disease. 

Fabry disease is a X-linked lysosomal storage disorder which is caused by mutations in the GLA gene. The GLA gene is the one that codes for AGA. The enzyme is crucial for breakdown of GL-3. When GL-3 builds up in cells due to the deficiency caused by Fabry disease, the patients experience symptoms like pain in hands and feet, rashes, very low amounts of sweat, opacity in the cornea (vision problems), GI issues, and kidney damage. 

Agalsidase beta replacement therapy works by replacing the deficiency enzyme and therefore causing a reduction in GL-3 accumulation. It provides the functional enzyme to the body and allows the body to breakdown GL-3, restoring bodily health and preventing further damage to the cells. It is administered through IV infusions, in dosages of 1mg/kg every two weeks. Each infusion takes around 4 hours and is heavily monitored in a clinical setting to prevent any adverse reactions. 

These adverse reactions arise due to hypersensitivity to the enzyme or being pregnant. When one is hypersensitive, their body may not be able to adjust to the immediate spike in the enzyme concentration, and react badly. On the other hand, for pregnant females, the effect of agalsidase beta is not yet well established or studied, making it difficult to predict whether it is a safe medicine for the developing fetus. 

Common side effects include chills/fever which is managed with antihistamines or corticosteroids, or in some cases, pain/fatigue/upper respiratory infections which are usually treated with a pause in the supply of medicine and symptomatic treatment. 

The efficacy of agalsidase beta to treat GL-3 accumulation is very high, as is seen through the research study, "Efficacy and safety of agalsidase beta in patients with Fabry disease: a randomized controlled trial" which found that it reduced GL-3 levels in the kidneys, skin and even the heart. Thus, leading to improvements in pain, renal codition and cardiac output. 

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