Diagnostic algorithm for confirming Fabry disease in SFN patients.

(A) Diagnostic algorithm for men. (B) Diagnostic algorithm for women. α-Gal A: α-galactosidase A, FD: Fabry disease, Lyso-GB3: lysosomal globotriaosylceramide. a Abnormal findings of the GLA gene include class 3 variants (uncertain to be pathogenic), class 4 variants (likely to be pathogenic), and class 5 variants (certain pathogenic). b The diagnosis FD is confirmed in women when the abnormal findings of the GLA gene complemented with abnormal findings in the biochemical assessment (α-Gal A and Lyso-GB3).