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However, treatment with IBATs should be initiated as soon as possible [88] (even before genetic test results)

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After release of TML by lysosomal protein degradation, this compound is hydroxylated by TMLD, after which the resulting HTML is cleaved by a specific aldolase, which uses pyridoxal 5-phosphate (PLP) as a cofactor, into TMABA and glycine Substrate and Intermediate Compounds Trimethyllysine (TML) TML is the starting substrate for carnitine biosynthesis, derived from the methylation of lysine residues in proteins