Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as angiokeratoma corporis diffusum. Peripheral painful neuropathy, eye involvement, cardiovascular problems, cerebrovascular complications, and renal failure are other manifestations of Fabry disease. |
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