Fabry Artery Disease

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Fabry disease is a rare X-linked lysosomal storage disorder caused by the absence or deficiency of hydrolase alpha-galactosidase A activity. As a consequence, accumulation of globotriaosylceramide occurs in a wide variety of cells throughout the human body. Specific gene mutations determine disease severity and different phenotypes Fabry disease is a multisystemic disease with non-specific initial manifestations. Neuropathic pain and acroparesthesia are one of the earliest symptoms, already reported in childhood or adolescence. Later signs and symptoms involve the heart, kidney and the brain and often lead to life-threatening complications such as cardiac and renal failure as well as cerebral strokes. Early therapy initiation can benefit the
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