You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Record Information
Creation Date2005-11-16 15:48:42 UTC
Update Date2017-03-02 21:26:05 UTC
Secondary Accession NumbersNone
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 ).
Isovaleryl L-carnitineHMDB
3-Methylbutyrylcarnitine, (+-)-isomerMeSH
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
ClassificationNot classified
StatusDetected and Quantified
  • Endogenous
  • Food
  • Cell signaling
  • Fuel and energy storage
  • Fuel or energy source
  • Lipid catabolism, Fatty acid transport, Energy production
  • Membrane integrity/stability
  • Nutrients
  • Stabilizers
  • Surfactants and Emulsifiers
Cellular locations
  • Extracellular
  • Membrane
Physical Properties
Experimental Properties
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
Water Solubility0.025 mg/mLALOGPS
pKa (Strongest Acidic)4.34ChemAxon
pKa (Strongest Basic)-7.1ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count3ChemAxon
Hydrogen Donor Count0ChemAxon
Polar Surface Area66.43 Å2ChemAxon
Rotatable Bond Count8ChemAxon
Refractivity86.41 m3·mol-1ChemAxon
Polarizability26.69 Å3ChemAxon
Number of Rings0ChemAxon
Rule of FiveYesChemAxon
Ghose FilterYesChemAxon
Veber's RuleYesChemAxon
MDDR-like RuleYesChemAxon
Spectrum TypeDescriptionSplash Key
LC-MS/MSLC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated)splash10-000j-9380000000-0e5c9a52b85b5dffea5bView in MoNA
1D NMR1H NMR SpectrumNot Available
2D NMR[1H,13C] 2D NMR SpectrumNot Available
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane
Biofluid Locations
  • Blood
  • Saliva
Tissue LocationNot Available
PathwaysNot Available
Normal Concentrations
BloodDetected and Quantified0.138 +/- 0.010 uMAdult (>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, ...
Abnormal Concentrations
BloodDetected and Quantified0.111 +/- 0.010 uMAdult (>18 years old)BothCeliac disease 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
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. [9034211 ]
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. [16425363 ]
Associated OMIM IDs
DrugBank IDNot Available
DrugBank Metabolite IDNot Available
Phenol Explorer Compound IDNot Available
Phenol Explorer Metabolite IDNot Available
FoodDB IDFDB022183
KNApSAcK IDNot Available
Chemspider ID4932271
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
NuGOwiki LinkHMDB00688
Metagene LinkHMDB00688
PubChem Compound6426851
PDB IDNot Available
ChEBI IDNot Available
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. [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. [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. [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. [16602101 ]