TY - JOUR T1 - Novel GLA T194A variant causes Fabry disease JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2020-239204 VL - 14 IS - 3 SP - e239204 AU - Maria Nicole Pestana AU - Francisca Gomes da Silva AU - José Durães AU - Gil Silva Y1 - 2021/03/01 UR - http://casereports.bmj.com/content/14/3/e239204.abstract N2 - Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of changes on the GLA gene. Though several mutations have been described, one must consider that even a specific mutation may present with variable clinical expression within the same family. Typically described as a disease that affects hemizygous men with no residual AGAL activity, we describe a novel FD mutation (first case of GLA T194A variant worldwide) in a 49-year-old woman presenting with a classic phenotype of FD. The patient investigation highlighted a previously not described mutation in exon 4 of the GLA gene, as for the substitution of threonine for alanine. The same mutation was identified in her children, one of them presenting with end-stage kidney disease (ESKD) in early adulthood. ER -