Fabry Disease

(Fabry disease, Angiokeratoma diffusum) The Fabry disease is a sphingolipidosis, an inherited metabolic disorder caused by a deficiency of ?-galactosidase A, which leads to angiokeratomas, Acroparästhesien, corneal opacities, repeated febrile episodes and kidney or heart failure. For more information, see Table sphingolipidosis. The Fabry disease is a sphingolipidosis, an inherited metabolic disorder caused by a deficiency of ?-galactosidase A, which leads to angiokeratomas, Acroparästhesien, corneal opacities, repeated febrile episodes and…

September 3, 2018
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