Isovaleryl-L-carnitine may be used as an analytical reference standard for the quantification of the analyte in biological samples using chromatography-based techniques.
ChEBI: O-isovalerylcarnitine is a C5-acylcarnitine having isovaleryl as the acyl substituent. It has a role as a human metabolite. It is functionally related to an isovaleric acid.
Isovaleryl-L-carnitine belongs to the acylcarnitines class of compounds. Acyl-L-carnitines are mostly produced from L-carnitine, which plays an important role in fatty acid metabolic pathways. The functions and roles of acyl-L-carnitines in various tissues like brain, heart, and muscle continue to attract much interest, since a number of diseases caused by defects of mitochondrial transport are characterized by specific metabolic dysfunctions and depend on the physiological role of the affected carrier in intermediary metabolism.
Isovalerylcarnitine is the phenotypic abnormality in iso-valeric acidemia resulting from an accumulation of isovaleric acid, which is toxic to the central nervous system. Isovaleric acidemia is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase resulting in the accumulation of derivatives of isovaleryl-CoA. It was the first organic acidemia recognized in humans and can cause significant morbidity and mortality. Early diagnosis and treatment with a protein restricted diet and supplementation with carnitine and glycine are effective in promoting normal development in severely affected individuals. An alternative pathway through glycine-N-acylase allows detoxification by producing isovaleryl-glycine, which is excreted. Thus, isovalerylcarnitine and isovalerylglycine are the hallmarks of this disorder in plasma and urine, respectively, and are elevated regardless of a patient′s metabolic condition.
