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Fabry Disease

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Fabry disease (FD) is a rare and a genetic disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. FD can affect many parts of the body including the kidneys, heart, and skin.
FD starts developing in the childhood and involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.

Symptoms of FD include episodes of pain in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas, a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss.
Some affected individuals have milder forms of the disorder that may appear later in life and affect only the heart or kidneys. Mutations in the GLA gene are one of the main causes of FD. This gene provides instructions for making an enzyme called alpha-galactosidase A.
This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Mutations in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively.
As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease.
The treatment of FD can be divided into therapies that aim to correct the underlying problem of decreased activity of the alpha galactosidase A enzyme and thereby reduce the risk of organ damage, and therapies to improve symptoms and life expectancy once organ damage has already occurred.

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