
Sign up to save your podcasts
Or


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.
By nucleotides_bioscienceFabry 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.