Fabry's disease causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]

Fabry’s disease is caused by a mutation in the GLA gene.

• Fabry’s disease is a genetically X – linked inherited disorder due to a mutation in the GLA gene which is responsible for coding lysosomal enzyme alpha galactosidase A.

• The deficiency of the enzyme leads to a build up of Gb3 (Globotriaosylhexidase) in the lysosomes.
• These accumulations in various tissues leads to classic manifestations of fabry’s disease that include skin, cardiac, renal, and neurological involvement.^[1]