Fabry disease is one of several dozen lysosomal storage disorders that interfere with the body’s ability to break down specific fatty substances. Fabry patients are missing or lack sufficient α‐galactosidase A (α‐Gal A) enzyme which results in sugars and fatty acids (Gb3) accumulating in the lysosomes, which function as the cells’ recycling centres, and impairs the function of several major organs. This can become a major problem in parts of the body that depend on small blood vessels, since the build-up – or “storage” – of Gb3 can clog these vessels. The areas that are most affected by the closing of small blood vessels are the kidneys, heart, nervous system, skin and inner ear.
Fabry disease is a X-linked inherited disorder, meaning the defective gene is on the X-chromosome which is one of two chromosomes that determines an individual’s sex. If a mother carries the Fabry gene, all of her male and female children will have a 50 per cent chance of inheriting the defective gene. If the father is the one carrying the Fabry gene, all of his female children will inherit the defective gene, but none of his male children will inherit it. An estimated one person in 40,000 to 60,000 has Fabry disease.
Difficult to diagnose for many patients, the earliest and most troublesome symptom of Fabry disease is pain.
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