GLA and Fabry disease: She had clinical findings consistent with the FD classic phenotype, including acroparesthesias, corneal opacities and mitral valve prolapse, and eventually received a diagnosis of Fabry disease after a brain MRI showing leukoencephalopathy with multifocal ischemic lesions led to the discovery of low α-Gal A activity and the R301P mutation in the alpha-galactosidase A (GLA) gene.