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Mutations in many ALS-associated genes are associated with cellular redox dysregulation, particularly SOD1 , C9orf72, FUS , TDP-43 , CHCHD10 , and ALS2

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For example, when histamine binds to a receptor on endothelial (blood vessel) cells, it causes vascular permeability, resulting in swelling and inflammation

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However, there are several tests that can help to confirm a diagnosis, including: Blood tests to measure levels of glutathione and other markers of liver function Genetic testing to look for mutations in the GSS gene Imaging tests, such as an ultrasound or MRI, to look for liver abnormalities If you suspect that you or a loved one may have glutathione synthetase deficiency, it is important to speak with a genetic counselor or other medical professional who can help guide you through the diagnostic process