Fabry's disease causes

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Overview

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

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Causes

• 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 build 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.