Fabry

Fabry disease is a rare genetic disorder that results from the buildup of a particular type of fat, known as globotriaosylceramide, in the body's cells. It is one of several lipid storage disorders and is caused by a deficiency of the enzyme alpha-galactosidase A (α-Gal A).

Symptoms

The symptoms of Fabry disease can range from mild to severe and can appear anytime from childhood to adulthood. Common symptoms include pain, particularly in the hands and feet; clusters of small, dark red spots on the skin; a decreased ability to sweat; cloudiness of the front part of the eye; gastrointestinal problems; ringing in the ears; and hearing loss.

Causes

Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for producing the enzyme alpha-galactosidase A, which is responsible for breaking down a specific type of fat molecule called globotriaosylceramide. Mutations in the GLA gene lead to a shortage (deficiency) of alpha-galactosidase A, causing globotriaosylceramide to accumulate in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system.

Diagnosis

Diagnosis of Fabry disease can be challenging because its symptoms are often nonspecific, meaning they could be caused by a variety of conditions. The diagnosis is usually confirmed by measuring the level of alpha-galactosidase A activity in a person's blood or tissues. Genetic testing can also be used to identify mutations in the GLA gene.

Treatment

There is currently no cure for Fabry disease, but treatments are available to help manage symptoms and slow the progression of the disease. These treatments include enzyme replacement therapy (ERT), which involves infusing a recombinant form of the alpha-galactosidase A enzyme into a person's bloodstream, and chaperone therapy, which uses small molecules to help the body's own alpha-galactosidase A work more effectively.

See also

• Lysosomal storage disease
• Genetic disorder
• Enzyme replacement therapy

References

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