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Reintroduction of SLC25A45 in KO HEK293 cells increased production of D 9 -HTML and -BB, supporting an essential role for SLC25A45 in TML uptake and carnitine biosynthesis (Fig

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Daily oral doses of high levels (~100 mg l-carnitine/kg body weight) of this compound are routinely employed in the treatment of organic acidemias and primary carnitine uptake deficiency (OMIM212140) and less frequently in the treatment of multiple other IEMs including, but not limited to, urea cycle defects, fatty acid oxidation disorders, mitochondrial disease, maple syrup urine disease (OMIM248600), and lysinuric protein intolerance (OMIM222700) (Mori et al