A member asked:

Fabry disease, what is this?

A doctor has provided 1 answer

Fabry's disease: Fabry's disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body. The primary defect which allows this to occur is the inherited deficiency of the enzyme, Alpha galactosidase A, this is normally responsible for the breakdown of globotriaosylceramide. For more info see: http://www.fabry.org/fsig.nsf/pages/fabry

Answered 6/24/2014

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