What is Fabry Disease

Have you, or someone you know, recently been diagnosed with Fabry Disease? Ask your Genetic Specialist or Genetic Counselor for more information on those who can help and support you, your family and friends. Don’t take on Fabry Disease alone, others are there to help you.

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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