A year later, genetic testing identified a PNV in the galactosidase A (GLA) gene, NM_000169.3:c.644A>G (p.N215S), associated with FD, confirmed by reduced alpha-galactosidase A (α-GAL A) enzyme activity (0.66 μmol/L/h, normal > 1.89) and elevated lysosomal globotriaosylsphingosine (lyso-Gb3) level of 5.46 ng/ml (normal ≤ 2.1). Here, GLA is linked to Fabry disease.