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Fabry Disease

Keywords: Fabry disease , lysosomal storage , enzyme replacement therapy

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Abstract:

Fabry s disease is a X linked Lysosomal storage disorder caused by a defect in α-galactosidase enzyme. This defect causes accumulation of lipids progressively in the vasculature and internal organs resulting in multiple complications and life threatening situation. It is characterized by pain, neurological, gastrointestinal, renal, cardiovascular, dermatological, rheumatological and oral manifestations. This review renders the pathophysiology, clinical features, diagnostic criteria s, differential diagnosis and management. This review also portrays the recent advancements that have been proposed for the management for this disorder. [Archives Medical Review Journal 2013; 22(1.000): 141-151]

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