Category: Genetic Disorders / Sphingolipidosis
Fabry disease is an X-linked inherited disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to the accumulation of a fatty substance (globotriaosylceramide) in cells throughout the body.
Approximately 1 in 40,000 to 1 in 117,000 males globally (Source: National Fabry Disease Foundation)
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