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

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.