2-Methylbutyryl-L-carnitine-d3 is intended for use as an internal standard for the quantification of 2-methylbutyryl-L-carnitine by GC- or LC-MS. 2-Methylbutyryl-carnitine is a naturally occurring acylcarnitine that is produced via L-isoleucine metabolism.1 Plasma levels of 2-methylbutyryl-carnitine are elevated in patients with non-alcoholic steatohepatitis (NASH).2 Elevated levels of 2-methylbutyryl-carnitine are associated with 2-methylbutyryl-CoA dehydrogenase deficiency (2-MBCDD), also known as short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency.3
1.Gibson, K.M., Burlingame, T.G., Hogema, B., et al.2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error of L-isoleucine metabolismPediatr. Res.47(6)830-833(2000) 2.Kalhan, S.C., Guo, L., Edmison, J., et al.Plasma metabolomic profile in nonalcoholic fatty liver diseaseMetabolism60(3)404-413(2011) 3.Van Calcar, S.C., Baker, M.W., Williams, P., et al.Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in WisconsinMol. Genet. Metab.110(1-2)111-115(2013)