Article
No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.
Molecular genetics & genomic medicine - 1 Jun 2024
Capelli Irene, Di Costanzo Roberta, Aiello Valeria, Lerario Sarah, De Giovanni Paola, Montevecchi Marcello, Cerretani Davide, Donadio Vincenzo, La Manna Gaetano, Mignani Renzo
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α-galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues and organs, which can result in life-threatening complications. The clinical presentation of the disease can vary from the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.