Article
Challenges in Fabry disease: the combination of two individually amenable GLA variants may be nonamenable to migalastat.
Future cardiology - 1 Jan 2023
Fernandes Raquel Menezes, Bento Dina, Marques Nuno, Azevedo Olga, Mota Teresa, Costa Hugo, Santo Miguel Espírito, Silva Daniela Carvalho, Jesus Ilídio
Abstract excerpt
Fabry disease is a rare lysosomal storage disorder caused by mutations in the GLA gene, resulting in reduced or absent α-Gal A activity. Migalastat is an oral chaperone therapy for Fabry patients with amenable GLA variants. We previously reported a case of a 60-year-old male patient with a classic phenotype of Fabry disease, presenting with two GLA variants: p.R356Q and p.G360R. Herein, we report that, although...
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