p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease

• Published in: Anatolian journal of cardiology Vol. 26; no. 5; pp. 411 - 413
• Main Authors: Barman, Hasan Ali, Atıcı, Adem, Özyıldırım, Serhan, Ceylaner, Serdar, Dursun, Memduh, Doğan, Sait Mesut
• Format: Journal Article
• Language: English
• Published: Turkey Turkish Society of Cardiology 01.05.2022; KARE Publishing
• Subjects: alpha-Galactosidase - genetics; Case Report; Fabry Disease - diagnosis; Fabry Disease - genetics; Humans; Mutation; Phenotype

Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity. Low alpha galactosidase-A enzyme activity causes progressive accumulation of globotriaosylceramide in various tissues and organs including...