Proteomic approach in Fabry disease: a case report

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism due to deficient activity of ?-galactosidase A that leads to accumulation of the enzyme substrates, mainly globotriaosylceramide (Gb3), in body fluids and lysosomes of many cell types (1,2). Progressive accumulation of Gb3 is associated with a wide range of signs and symptoms of the disease, including renal failure, cardiovascular dysfunction, neuropathy, stroke and dermatological manifestations in the form of angiokeratomas. We report a case of two brothers with the same genetic alteration in the GLA gene (c.718_719delAA), but showing different clinical manifestations (one of them has renal disorders and the other one has cardiac anomalies). We found that these two patients had a different proteomic profile. We know that these differences might be due to a different genetic background. We believe that the identification of proteins by mass spectrometry might give us further information about the complex mechanisms of Fabry disease, in which different genetic factors may contribute to the wide range of clinical manifestations.