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L-carnitine itself, as well as several of its metabolites, including GBB, crotonobetaine, and trimethylamine-n-oxide (TMAO), have been associated with cerebrovascular dysfunction and cardiovascular disease (Koeth et al., 2013, 2014, 2019

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Genetic testing for abnormalities in the CBS gene is more accurate, but not routinely performed.11 Newborns diagnosed with CBS deficiency are treated with methionine-free formulas