What is Fabry?

Fabry Disease - An Ophan disease



Fabry Disease is one of several dozen Lysosomal Storage Disorders that interfere with the body’s ability to break down specific fatty substances. It is a very rare disease and because the rate of occurrence is less than 1 in 50,000 is considered one of the many “orphan” diseases.

Fabry affected are missing or lack sufficient alpha-galactosidase A (alpha-gal A) enzyme which results in sugars and fatty acids (Gb3) accumulating in the cells throughout the body.

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