Fabry Disease

Fabry Disease is a rare genetic disorder caused by a deficiency of an enzyme called alpha-galactosidase A. This enzyme is essential for breaking down a fatty substance called globotriaosylceramide, which can build up in various tissues and organs, leading to a range of symptoms. Affected individuals may experience pain, skin rashes, kidney problems, and heart complications. The disease typically manifests in childhood or adolescence and can be hereditary, passed down through families. Early diagnosis and treatment options, including enzyme replacement therapy, can help manage symptoms and improve quality of life.