Abstract
Fabry Disease (FD) is a rare form of progressive genetic disorder, which results on damages to multi-organs especially cardio-renal system [1]. As for the genetic origin, FD is occurred due to the specific mutation of the GLA gene, which is routed on X Chromosome, where currently more than 800 types of different GLA mutations have been reported [1,2].
Highlights
Fabry Disease (FD) is a rare form of progressive genetic disorder, which results on damages to multi-organs especially cardio-renal system [1]
As for the genetic origin, FD is occurred due to the specific mutation of the GLA gene, which is routed on X Chromosome, where currently more than 800 types of different GLA mutations have been reported [1,2]
Based on the genetic mutated forms, even a single-point mutation for GLA gene is pathogenic to develop the manifestation of Fabry Disease [3]
Summary
Fabry Disease (FD) is a rare form of progressive genetic disorder, which results on damages to multi-organs especially cardio-renal system [1]. The accurate incidence and prevalence of Fabry disease has ranged between different populations from 1:336,000 in males (11) and 1:339,000 in female carriers in U.K.
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