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2-Methylbutyrylglycine is a metabolite of the essential amino acid L-isoleucine.1,2 It is produced by hydrolysis of the L-isoleucine catabolic intermediate (S)-2-methylbutyryl-CoA, which accumulates when the activity of 2-methylbutyryl-CoA dehydrogenase is deficient. 2-Methylbutyrylglycine (0.5-5 mM) induces the formation of thiobarbituric acid reactive substances (TBARS) in isolated rat cerebral cortex.3 Elevated levels of 2-methylbutyrylglycine are associated with 2-methylbutyryl-CoA dehydrogenase deficiency (2-MBCDD), also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency.1,2
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1. 2-
2. Quantification of acylglycines in human urine by HPLC electrospray ionization-
3. 2-