3-(3-methylbutanoyloxy)-4-trimethylammonio-butanoate Chemical Properties

storage temp. 

2-8°C

solubility 

Soluble in DMSO

form 

Solid

color 

White to off-white

Appearance

white solid

optical activity

[α]/D -23±2°, c = 1 in H2O

BRN 

5946880

InChI

1S/C12H23NO4/c1-9(2)6-12(16)17-10(7-11(14)15)8-13(3,4)5/h9-10H,6-8H2,1-5H3/t10-/m1/s1

InChIKey

IGQBPDJNUXPEMT-SNVBAGLBSA-N

SMILES

C[N+](C)(C)C[C@H](OC(CC(C)C)=O)CC([O-])=O

Safety Information

WGK Germany 

WGK 3

Storage Class

11 - Combustible Solids

3-(3-methylbutanoyloxy)-4-trimethylammonio-butanoate Usage And Synthesis

Description

(C5) Isovalerylcarnitine is an analogue of endogenous acylcarnitine, formed in the body as a result of leucine metabolism, and has an isovaleric acid residue as an acyl substituent. The profile of acylcarnitines in blood and tissues is used as a marker of various conditions associated with mitochondrial (and/or peroxisomal) dysfunction.

The product is used primarily as a control for MS/MS.

Isovalerylcarnitine — the main biochemical marker for isovaleric acidemia, which occurs as a result of deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase. Isovalerylcarnitine has been found to be associated with celiac disease and very long chain acyl-CoA dehydrogenase deficiency (VLCAD). Also, the level of isovalerylcarnitine is determined when studying neuralgia, for example, with trigeminal neuralgia.

Uses

Isovaleryl-L-carnitine may be used as an analytical reference standard for the quantification of the analyte in biological samples using chromatography-based techniques.

Definition

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.

General Description

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.

Biochem/physiol Actions

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.

IC 50

Human Endogenous Metabolite