Small fiber neuropathy patients analyzed for Fabry disease in the Maastricht University Medical Center.

Illustration of the outcome of investigations to confirm the diagnosis of Fabry disease. α-Gal A: α-galactosidase A, Lyso-GB3: lysosomal globotriaosylceramide, FD: Fabry disease, SFN: small fiber neuropathy. a Missing data. b The measurement of lyso-GB3 excretion in urine was incorporated in our workflow for SFN patients from April 2012. c GLA gene sequencing was performed in all women, and in males in case of reduced α-Gal A enzyme activity. d These includes the class 2 variants (unlikely to be pathogenic) and the class 3 variants (uncertain to be pathogenic).