Uses
2-Methylbutyrylcarnitineis was detected in a study of maternal liver metabolic response to vitamin D deficiency.
Definition
ChEBI: 2-methylbutyrylcarnitine is a C5-acylcarnitine having 2-methylbutyryl as the acyl substituent. It has a role as a human metabolite. It is functionally related to a 2-methylbutyric acid.
Biological Activity
2-Methylbutyryl-L-carnitine is not usually detected in normal individuals. The elevation of 2-methylbutyrylcarnitine suggests a deficiency of a dehydrogenase specific for isobutyryl-CoA, important in the differential diagnosis of branched chain organic acidurias by analysis of urinary organic acids and acylcarnitines in plasma or dried blood spots.