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Record Information
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2020-11-09 23:14:11 UTC
Secondary Accession Numbers
  • HMDB00688
Metabolite Identification
Common NameIsovalerylcarnitine
DescriptionIsovalerylcarnitine 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 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 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.
Isovaleryl L-carnitineHMDB
3-Methylbutyrylcarnitine, (+-)-isomerHMDB
Chemical FormulaC12H23NO4
Average Molecular Weight245.3153
Monoisotopic Molecular Weight245.162708229
IUPAC Name3-[(3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate
Traditional Nameisovalerylcarnitine
CAS Registry Number31023-24-2
InChI Identifier
Chemical Taxonomy
Description 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.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassFatty Acyls
Sub ClassFatty acid esters
Direct ParentAcyl carnitines
Alternative Parents
  • 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 FrameworkAliphatic acyclic compounds
External Descriptors
Physiological effect

Health effect:


Route of exposure:


Biological location:


Naturally occurring process:


Industrial application:

Biological role:

Physical Properties
Experimental Properties
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
Water Solubility0.025 g/LALOGPS
pKa (Strongest Acidic)4.34ChemAxon
pKa (Strongest Basic)-7.1ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count3ChemAxon
Hydrogen Donor Count0ChemAxon
Polar Surface Area66.43 ŲChemAxon
Rotatable Bond Count8ChemAxon
Refractivity86.41 m³·mol⁻¹ChemAxon
Polarizability26.69 ųChemAxon
Number of Rings0ChemAxon
Rule of FiveYesChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Spectrum TypeDescriptionSplash KeyView
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated)splash10-000j-9380000000-0e5c9a52b85b5dffea5bSpectrum
1D NMR1H NMR SpectrumNot AvailableSpectrum
2D NMR[1H,13C] 2D NMR SpectrumNot AvailableSpectrum
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane
Biospecimen Locations
  • Blood
  • Saliva
  • Urine
Tissue Locations
  • Placenta
Normal Concentrations
BloodDetected and Quantified<0.400 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified0.138 +/- 0.010 uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified<0.600 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified0.46 uMNewborn (0-30 days old)Not SpecifiedNormal details
BloodDetected and Quantified<0.110 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.049 (0.032-0.082) uMChildren (1-13 years old)BothNormal details
SalivaDetected and Quantified0.073 +/- 0.035 uMAdult (>18 years old)BothNormal
    • Zerihun T. Dame, ...
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
UrineDetected and Quantified<3.0 umol/mmol creatinineNewborn (0-30 days old)Not SpecifiedNormal details
Abnormal Concentrations
BloodDetected and Quantified0.111 +/- 0.010 uMAdult (>18 years old)BothCeliac disease details
BloodDetected and Quantified27.300-48.200 uMNot SpecifiedNot SpecifiedIsovaleric acidemia details
BloodDetected and Quantified0.052 (0.022-0.068) uMAdult (>18 years old)BothVery long-chain acyl-CoA dehydrogenase deficiency (vLCAD) details
Associated Disorders and Diseases
Disease References
Celiac disease
  1. 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 ]
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  1. 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 ]
Isovaleric acidemia
  1. 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)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022183
KNApSAcK IDNot Available
Chemspider ID4932271
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
PubChem Compound6426851
PDB IDNot Available
ChEBI ID73025
Food Biomarker OntologyNot Available
MarkerDB IDMDB00000219
Synthesis ReferenceNakanishi, 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
  1. 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 ]
  2. 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 ]
  3. 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 ]
  4. 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 ]
  5. Brunk E, Sahoo S, Zielinski DC, Altunkaya A, Drager A, Mih N, Gatto F, Nilsson A, Preciat Gonzalez GA, Aurich MK, Prlic A, Sastry A, Danielsdottir AD, Heinken A, Noronha A, Rose PW, Burley SK, Fleming RMT, Nielsen J, Thiele I, Palsson BO: Recon3D enables a three-dimensional view of gene variation in human metabolism. Nat Biotechnol. 2018 Mar;36(3):272-281. doi: 10.1038/nbt.4072. Epub 2018 Feb 19. [PubMed:29457794 ]
  6. Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043. [PubMed:32033212 ]