Fabry's disease overview

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

• Fabry's disease (also known as alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum) is an X-linked recessive inherited lysosomal storage disorder.
• It occurs as a result of the body's inability to make an enzyme alpha-galactosidase A. This enzyme in-turn is responsible for breaking down a type of fat called globotriaosylceramide (Gb3 or GL-3) into building blocks that are used by the cells of the body.
• The abnormal accumulation of this fat is identified as the cause behind the varied manifestations associated with the disease
• The three main organ systems typically involved included the heart, kidney and central nervous system