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Fabry's disease is an X linked recessive lysosomal storage disorder resulting from a deficiency of the enzyme alpha-galactosidase which causes an inability to catabolise glycosphingolipid.1 There is progressive accumulation of globotriaosylceramide in many organs including skin, myocardium and kidneys. The classical form of the disease affects male homozygotes and presents in adolescence with burning extremity pain (acroparaesthesia) and progressive multi-organ failure. The most common variant is …
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