A New Genetic Insight for Orphan Renal Disorder, Fabry: A Review
Pragati Karemore, Dinesh Kumar, Anil Kumar
Journal of Pharmaceutical Research International · pp. 563–576 · Published 15 Dec 2021
10.9734/jpri/2021/v33i58A34152Abstract
Fabry is the rare X-linked genetic disorder caused due to mutation in Alpha –Galactosidase encoding GLA gene mutation in chromosome number 22. It has wide diversification in prevalence due to clinical heterozygosity. There are some potential biomarkers for the evaluation of normal or altered genes responsible for Fabry. Advances in the research of biomarkers over the years have made significant development for several clinical indicators, viz. urine-derived cells, oxidative stress, DNA methylation, etc. At present days the recommended therapies for the disease are Enzyme Replacement Therapy (ERT), Chaperone therapy (CT), and mRNA-based therapy, besides, some second-generation therapies which are still under clinical trials.
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