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While the OAT is not designed specifically to diagnose classically defined IEMs, persistent marked elevations in OAs noted on the profile may indicate an undiagnosed underlying metabolic pathway defect

10.1016/j.clim.2003.08.006

96,97 Moreover, the ME1 protein is hypophosphorylated at S336 and hyperacetylated at K337 by PGAM family member 5 and acetyl-CoA acetyltransferase, respectively, resulting in ME1 translocation from mitochondria to the cytosol, dimerization and activation, thus strongly promoting NADPH generation and tumorigenesis