Case Report
p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease
Hasan Ali Barman 1
, Adem Atıcı 1
, Serhan Özyıldırım 1
, Serdar Ceylaner 2
, Memduh Dursun 3
, Sait Mesut Doğan 1
, Adem Atıcı 1
, Serhan Özyıldırım 1
, Serdar Ceylaner 2
, Memduh Dursun 3
, Sait Mesut Doğan 1
1Department of Cardiology, İstanbul University-Cerrahpaşa, Institute of Cardiology, İstanbul, Turkey
2Department of Medical Genetics, Intergen Genetic Centre, Ankara, Turkey
3Department of Radiology, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey
2Department of Medical Genetics, Intergen Genetic Centre, Ankara, Turkey
3Department of Radiology, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey
Anatol J Cardiol 2022; 26(5): 411-413 PubMed ID: 35552179 PMCID: 9366415 DOI: 10.5152/AnatolJCardiol.2021.393
Abstract
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 the myocardium, kidney, and nervous system. Left ventricular hypertrophy (LVH) is the most common cause of cardiac involvement in patients with Fabry disease. Over a thousand different mutations have been identified in the GLA gene up to now. We describe a case of a 54-year-old male with Fabry disease due to a novel GLA gene mutation.