Fabry Disease [SIMPLIFIED] - Cause, Symptoms, Diagnosis and Treatment | Nucleotides

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.

Whats in this Video?

0:00 What is Fabry Disease?
1:21 Classic Fabry Disease
2:36 Non classic Fabry Disease
3:00 How is Fabry Disease diagnosed?
3:26 What is the treatment for Fabry Disease?
4:08 Quick summary

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