Human Metabolome Database: Showing metabocard for Isovalerylcarnitine (HMDB0000688)

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Identification Taxonomy Ontology Physical properties Spectra Biological properties Concentrations Links References XML

Record Information

Version

4.0

Status

Detected and Quantified

Creation Date

2005-11-16 15:48:42 UTC

Update Date

2018-05-20 08:50:41 UTC

HMDB ID

HMDB0000688

Secondary Accession Numbers

HMDB00688

Metabolite Identification

Common Name

Isovalerylcarnitine

Description

Isovalerylcarnitine is the phenotypic abnormality in isovaleric acidemia (OMIM 243500 ) 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 (EC 1.3.99.10) 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 (EC 2.3.1.13) allows detoxification by producing isovalerylglycine, 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 (PMID: 16602101 ). Moreover, isovalerylcarnitine is found to be associated with celiac disease and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), which are also inborn errors of metabolism.

Structure

Synonyms

Value	Source
3-Methylbutyrylcarnitine	ChEBI
Isovaleryl L-carnitine	HMDB
3-Methylbutyrylcarnitine, (+-)-isomer	MeSH

Chemical Formula

C₁₂H₂₃NO₄

Average Molecular Weight

245.3153

Monoisotopic Molecular Weight

245.162708229

IUPAC Name

3-[(3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate

Traditional Name

isovalerylcarnitine

CAS Registry Number

31023-24-2

SMILES

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

InChI Identifier

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

InChI Key

IGQBPDJNUXPEMT-UHFFFAOYSA-N

Chemical Taxonomy

Description

This compound belongs to the class of organic compounds known as acyl carnitines. These are organic compounds containing a fatty acid with the carboxylic acid attached to carnitine through an ester bond.

Kingdom

Organic compounds

Super Class

Lipids and lipid-like molecules

Class

Fatty Acyls

Sub Class

Fatty acid esters

Direct Parent

Acyl carnitines

Alternative Parents

Substituents

Acyl-carnitine
Branched fatty acid
Dicarboxylic acid or derivatives
Tetraalkylammonium salt
Quaternary ammonium salt
Carboxylic acid ester
Carboxylic acid salt
Carboxylic acid derivative
Carboxylic acid
Organonitrogen compound
Hydrocarbon derivative
Organic oxide
Organopnictogen compound
Organic nitrogen compound
Carbonyl group
Organic oxygen compound
Amine
Organooxygen compound
Organic salt
Aliphatic acyclic compound

Molecular Framework

Aliphatic acyclic compounds

External Descriptors

C5-acylcarnitine (CHEBI:73025 )

Ontology

Ingestion

Source:

Biological:

Animal

Biological location:

Biofluid and excreta:

Cell and elements:

Extracellular

Subcellular:

Process

Naturally occurring process:

Biological process:

Chemical reaction:

Lipid peroxidation

Biochemical pathway:

Lipid metabolism pathway

Biochemical process:

Cellular process:

Cell signaling

Role

Industrial application:

Biological role:

Physical Properties

State

Solid

Experimental Properties

Property	Value	Reference
Melting Point	Not Available	Not Available
Boiling Point	Not Available	Not Available
Water Solubility	Not Available	Not Available
LogP	Not Available	Not Available

Predicted Properties

Property	Value	Source
Water Solubility	0.025 g/L	ALOGPS
logP	-2	ALOGPS
logP	-3	ChemAxon
logS	-4.1	ALOGPS
pKa (Strongest Acidic)	4.34	ChemAxon
pKa (Strongest Basic)	-7.1	ChemAxon
Physiological Charge	0	ChemAxon
Hydrogen Acceptor Count	3	ChemAxon
Hydrogen Donor Count	0	ChemAxon
Polar Surface Area	66.43 Å²	ChemAxon
Rotatable Bond Count	8	ChemAxon
Refractivity	86.41 m³·mol⁻¹	ChemAxon
Polarizability	26.69 Å³	ChemAxon
Number of Rings	0	ChemAxon
Bioavailability	1	ChemAxon
Rule of Five	Yes	ChemAxon
Ghose Filter	Yes	ChemAxon
Veber's Rule	Yes	ChemAxon
MDDR-like Rule	Yes	ChemAxon

Spectra

Spectrum Type	Description	Splash Key
LC-MS/MS	LC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated)	splash10-000j-9380000000-0e5c9a52b85b5dffea5b	View in MoNA
1D NMR	1H NMR Spectrum	Not Available	View in JSpectraViewer
2D NMR	[1H,13C] 2D NMR Spectrum	Not Available	View in JSpectraViewer

Biological Properties

Cellular Locations

Extracellular
Membrane

Biospecimen Locations

Blood
Saliva
Urine

Tissue Locations

Not Available

Pathways

Not Available

Name	SMPDB/Pathwhiz	KEGG

Normal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected and Quantified	<0.400 uM	Not Specified	Not Specified	Normal	10832746	details
Blood	Detected and Quantified	0.138 +/- 0.010 uM	Adult (>18 years old)	Both	Normal	16425363	details
Blood	Detected and Quantified	<0.600 uM	Not Specified	Not Specified	Normal	12837870	details
Blood	Detected and Quantified	0.46 uM	Newborn (0-30 days old)	Not Specified	Normal	15615815	details
Blood	Detected and Quantified	<0.110 uM	Not Specified	Not Specified	Normal	16148061	details
Blood	Detected and Quantified	0.049 (0.032-0.082) uM	Children (1-13 years old)	Both	Normal	9034211	details
Saliva	Detected and Quantified	0.073 +/- 0.035 uM	Adult (>18 years old)	Both	Normal	Zerihun T. Dame, ...	details
Urine	Detected and Quantified	<3.0 umol/mmol creatinine	Newborn (0-30 days old)	Not Specified	Normal	15615815	details

Abnormal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Blood	Detected and Quantified	0.111 +/- 0.010 uM	Adult (>18 years old)	Both	Celiac disease	16425363	details
Blood	Detected and Quantified	27.300-48.200 uM	Not Specified	Not Specified	Isovaleric acidemia	12837870	details
Blood	Detected and Quantified	0.052 (0.022-0.068) uM	Adult (>18 years old)	Both	Very long-chain acyl-CoA dehydrogenase deficiency (vLCAD)	9034211	details

Associated Disorders and Diseases

Disease References

Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed:9034211 ]
Celiac disease
Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed:16425363 ]
Isovaleric acidemia
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J: Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. [PubMed:12837870 ]

Associated OMIM IDs

212750 (Celiac disease)
201475 (Very Long Chain Acyl-CoA Dehydrogenase Deficiency)
243500 (Isovaleric acidemia)

External Links

DrugBank ID

Not Available

Phenol Explorer Compound ID

Not Available

FoodDB ID

FDB022183

KNApSAcK ID

Not Available

Chemspider ID

4932271

KEGG Compound ID

Not Available

BioCyc ID

Not Available

BiGG ID

Not Available

Wikipedia Link

Not Available

METLIN ID

5657

PubChem Compound

6426851

PDB ID

Not Available

ChEBI ID

73025

References

Synthesis Reference

Nakanishi, Toyofumi; Shimizu, Akira; Arimoto, Masao; Kanai, Michiko. Synthesis of acylcarnitines for differential diagnosis of metabolic disorders. Nippon Iyo Masu Supekutoru Gakkai Koenshu (1993), 18 129-32.

Material Safety Data Sheet (MSDS)

Not Available

General References

Salamino F, Di Lisa F, Burlina AB, Menabo R, Barbato R, De Tullio R, Siliprandi N: Involvement of erythrocyte calpain in glycine- and carnitine-treated isovaleric acidemia. Pediatr Res. 1994 Aug;36(2):182-6. [PubMed:7970932 ]
Fries MH, Rinaldo P, Schmidt-Sommerfeld E, Jurecki E, Packman S: Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. J Pediatr. 1996 Sep;129(3):449-52. [PubMed:8804338 ]
Silva MF, Selhorst J, Overmars H, van Gennip AH, Maya M, Wanders RJ, de Almeida IT, Duran M: Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS. Clin Biochem. 2001 Nov;34(8):635-8. [PubMed:11849623 ]
Vockley J, Ensenauer R: Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. [PubMed:16602101 ]