Abstract
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.
Highlights
Fabry is the rare X-linked genetic disorder caused due to mutation in Alpha –Galactosidase encoding GLA gene mutation in chromosome number 22
Fabry disease is a rare renal disorder caused by mutation of the X-linked GLA gene which results in the deficiency of alpha-galactosidase [1]
The early detection of proteinuria is the apparent sign of abnormal renal dysfunction that leads to renal failure in many individuals before the treatment methodology was developed like Enzyme replacement therapy [12]
Summary
Accumulation of GB3 can lead to various symptoms and for the progression of the. Fabry disease is a rare renal disorder caused by mutation of the X-linked GLA gene which results in the deficiency of alpha-galactosidase [1]. The cells which are deficient in the alphagalactosidase enzyme can not metabolize glycosphingolipid mainly Globotriaosylceramide cascade (series of progressive events) rather than deficiency of enzymes so maybe a diagnostic tool for the detection of Fabry disease [8]. GB3 cannot gain its original metabolized form Alpha-D-Galactosyl residue which is the end product of the reaction and gets clustered in
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