Uses
Hydroxyisovaleroyl Carnitine is used as a diagnostic tool to identify the presence of orofacial clefts. Also used in the screening and diagnostics of inborn errors of metabolism.
Definition
ChEBI: Hydroxyisovaleroyl carnitine is an O-acylcarnitine.
Biological Activity
3-Hydroxyisovaleryl-L-carnitine is an endogenous metabolite th at can result from impairment in the leucine catabolic pathway. 3-Hydroxyisovaleryl-L-carnitine was observed in plasma and urine of patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency and is used as biomarker of biotin deficiency in humans and other metabolic disorders.
