Fabry Disease

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Fabry disease is a rare progressive X-linked inborn error of metabolism (lysosomal storage disorder). It is caused by deficient α-galactosidase A activity which results in the progressive accumulation of glycolipids in various tissues and organs. Severe episodic pain crises in the extremities is one of the manifestations of the disease. Depending on enzyme activity the disease can manifest as a child (classic phenotype) or later on even as an adult (atypical and late onset variants). Enzyme replacement therapy is available.