hexanoylcarnitine

Name: hexanoylcarnitine

Description: Hexanoylcarnitine is an acylcarnitine. Numerous disorders have been described that lead to disturbances in energy production and in intermediary metabolism in the organism which are characterized b... y the production and excretion of unusual acylcarnitines. A mutation in the gene coding for carnitine-acylcarnitine translocase or the OCTN2 transporter aetiologically causes a carnitine deficiency that results in poor intestinal absorption of dietary L-carnitine, its impaired reabsorption by the kidney and, consequently, in increased urinary loss of L-carnitine. Determination of the qualitative pattern of acylcarnitines can be of diagnostic and therapeutic importance. The betaine structure of carnitine requires special analytical procedures for recording. The ionic nature of L-carnitine causes a high water solubility which decreases with increasing chain length of the ester group in the acylcarnitines. Therefore, the distribution of L-carnitine and acylcarnitines in various organs is defined by their function and their physico-chemical properties as well. High performance liquid chromatography (HPLC) permits screening for free and total carnitine, as well as complete quantitative acylcarnitine determination, including the long-chain acylcarnitine profile (PMID: 17508264, MonatsheftefuerChemie(2005), 136(8), 1279-1291. , Int J Mass Spectrom. 1999; 188:39-52. ). Hexanoylcarnitine is a medium-chain acylcarnitine present in the urine of patients with medium-chain acyl-CoA dehydrogenase deficiency (PubMed ID 1635814 ). Moreover, hexanoylcarnitine is found to be associated with glutaric aciduria II, which is also an inborn error of metabolism. (HMDB0000705)