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Fabry disease

Fabry disease Causes

Fabry disease is caused by a mutation in the genes that controls the production of the enzyme and causes the buildup of lipids in the kidneys, eyes, autonomic nervous system as well as the cardiovascular system.

Fabry disease Definition

Fabry disease is basically caused by the faulty or lack of enzyme that are needed to efficiently metabolize lipids, which are fat-like substances that include waxes, oils and fatty acids. This enzyme is known as alpha-galactosidase-A or otherwise known as ceramide trihexosidase.

Fabry disease Diagnosis

Laboratory tests are conducted to measure enzyme levels.

Fabry disease Symptoms and Signs

Symptoms of Fabry disease usually manifests during early childhood or during adolescence stage which typically include burning sensations felt in the hands that usually worsens during hot weather and indulging strenuous activities. Other symptoms also include reddish-purple blemishes on the skin, cloudy cornea, increase risk of heart attacks because of enlarged heart as well as kidneys along with fever and gastrointestinal disorders. In severe cases, kidney complications and renal failure may occur.

Fabry disease Treatment

Treatment concentrates on effectively slowing the disease's progression. Pain on the feet and hands are usually administered with anticonvulsants such as carbamazepine and phenytoin. Metoclopramide is also used to treat gastrointestinal hyperactivity. Kidney treatments include transplants and dialysis.

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