What is Fabry disease? Fabry disease is a rare X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase A or alpha-gal A.

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This video explains that Fabry disease is a rare, inherited condition, caused by the lack of an enzyme, as a result of a genetic change on the X-chromosome. The video illustrates the inheritance patterns of Fabry disease and the wide range of physical signs and symptoms associated with the condition. Additionally, the video highlights that although there is no cure for Fabry disease, early diagnosis is essential to ensure timely treatment and management of the disease.

INTSP/EXA/FAB/15/0071(1)
Date of preparation: February 2017
Video Rating: / 5