
Fabry Disease
Fabry disease (also known as a lysosomal storage disorder) is a condition caused by a mutation in the GLA gene — which is responsible for making an enzyme called alpha-galactosidase A. This enzyme is essential to metabolize fatty lipids in the body called globotriaosylceramide (GL-3 or Gb3). When GL-3 is not broken down, it accumulates in the cells in your body, causing cell damage and the narrowing down of blood vessels. This results in intense, chronic pain for the patient, and could lead to kidney failure, osteoporosis, stroke, high blood pressure, or heart attack. In the most severe cases, the patient may need a kidney transplant.
The disease runs in families, as it is passed down through genes. Symptoms usually appear between the ages of 30 and 45, although they could first appear during childhood. Although the condition is progressive — with proper treatment — people with Fabry disease can lead relatively normal lives
Treatments perscribed by:
Referral Forms
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All Referral Forms