Nucleotides

Fabry Disease | Nucleotides


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Fabry disease is a rare genetic disorder that affects the X chromosome. It is caused by mutation in the GLA gene resulting in decreased alpha galactosidase A enzyme or alpha-gal A, leading to the buildup of large glycosphingolipids like Globotriaosylceramide (GL3) in lysosomes.

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NucleotidesBy nucleotides_bioscience