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The practical implication is simple but important

Of these rare syndromes, THMD3 (also called Amish-type microcephaly or Amish lethal microcephaly) has the more severe phenotype, resulting in a congenital microcephaly, elevated concentrations of -ketoglutarate in urine, and usually death in infancy (121)

This allows you to continue benefiting from your medication while maintaining overall health and safety

Glutathione, or (GSH), is the primary intracellular antioxidant involved in preventing lipid and protein oxidation, and is a critical component in the enzymatic process used to detoxify hydroxide peroxide (H2O2)

doi: 10.1007/s11357-025-01653-2, 21

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