Fabry: A Rare Genetic Disorder

Fabry: A Rare Genetic Disorder

Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A. This enzyme is crucial for the breakdown of certain lipids, specifically globotriaosylceramide (GL-3). When this enzyme is deficient or absent, GL-3 accumulates in various cells and tissues, leading to a range of symptoms and complications. read more

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