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Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2021-09-14 15:44:51 UTC
HMDB IDHMDB0000491
Secondary Accession Numbers
  • HMDB0001962
  • HMDB0002254
  • HMDB0003736
  • HMDB0004750
  • HMDB00491
  • HMDB01962
  • HMDB02254
  • HMDB03736
  • HMDB04750
Metabolite Identification
Common Name3-Methyl-2-oxovaleric acid
Description3-Methyl-2-oxovaleric acid (CAS: 1460-34-0) is an abnormal metabolite that arises from the incomplete breakdown of branched-chain amino acids. 3-Methyl-2-oxovaleric acid is a neurotoxin, an acidogen, and a metabotoxin. A neurotoxin causes damage to nerve cells and nerve tissues. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of 3-methyl-2-oxovaleric acid are associated with maple syrup urine disease. MSUD is a metabolic disorder caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. The symptoms of MSUD often show in infancy and lead to severe brain damage if untreated. MSUD may also present later depending on the severity of the disease. If left untreated in older individuals, during times of metabolic crisis, symptoms of the condition include uncharacteristically inappropriate, extreme, or erratic behaviour and moods, hallucinations, anorexia, weight loss, anemia, diarrhea, vomiting, dehydration, lethargy, oscillating hypertonia and hypotonia, ataxia, seizures, hypoglycemia, ketoacidosis, opisthotonus, pancreatitis, rapid neurological decline, and coma. In maple syrup urine disease, the brain concentration of branched-chain ketoacids can increase 10- to 20-fold. This leads to a depletion of glutamate and a consequent reduction in the concentration of brain glutamine, aspartate, alanine, and other amino acids. The result is a compromise of energy metabolism because of a failure of the malate-aspartate shuttle and a diminished rate of protein synthesis (PMID: 15930465 ). 3-Methyl-2-oxovaleric acid is a keto-acid, which is a subclass of organic acids. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart, liver, and kidney abnormalities, seizures, coma, and possibly death. These are also the characteristic symptoms of untreated MSUD. Many affected children with organic acidemias experience intellectual disability or delayed development.
Structure
Data?1599686120
Synonyms
ValueSource
(3S)-2-oxo-3-Methyl-N-valeric acidChEBI
(3S)-3-Methyl-2-oxopentanoic acidChEBI
(S)-2-oxo-3-Methylpentanoic acidChEBI
(S)-3-Methyl-2-oxopentanoic acidChEBI
(S)-OMVChEBI
(3S)-3-Methyl-2-oxopentanoateKegg
(3S)-2-oxo-3-Methyl-N-valerateGenerator
(S)-2-oxo-3-MethylpentanoateGenerator
(S)-3-Methyl-2-oxopentanoateChEBI
3S-Methyl-2-oxo-pentanoateGenerator
2-Oxo-3-methyl-n-valeric acidHMDB
2-Oxo-3-methylpentanoic acidHMDB
2-Oxo-3-methylvaleric acidHMDB
2-OxoisoleucineHMDB
3-Methyl-2-ketovaleric acidHMDB
3-Methyl-2-oxopentanoic acidHMDB
3-Methyl-2-oxovaleric acidHMDB
L-2-Keto-3-MethylvalerateHMDB
L-2-keto-3-Methylvaleric acidHMDB
L-alpha-keto-beta-Methylvaleric acidHMDB
L-α-keto-β-Methylvaleric acidHMDB
alpha-keto-beta-Methylvaleric acidHMDB
alpha-Oxo-beta-methyl-n-valeric acidHMDB
alpha-Oxo-beta-methylvaleric acidHMDB
alpha-keto-beta-Methyl-n-valeric acidHMDB
α-keto-β-Methylvaleric acidHMDB
α-Oxo-β-methyl-n-valeric acidHMDB
α-Oxo-β-methylvaleric acidHMDB
α-keto-β-Methyl-n-valeric acidHMDB
Chemical FormulaC6H10O3
Average Molecular Weight130.1418
Monoisotopic Molecular Weight130.062994186
IUPAC Name(3S)-3-methyl-2-oxopentanoic acid
Traditional Name(S)-omv
CAS Registry Number24809-08-3
SMILES
CC[C@H](C)C(=O)C(O)=O
InChI Identifier
InChI=1S/C6H10O3/c1-3-4(2)5(7)6(8)9/h4H,3H2,1-2H3,(H,8,9)/t4-/m0/s1
InChI KeyJVQYSWDUAOAHFM-BYPYZUCNSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as short-chain keto acids and derivatives. These are keto acids with an alkyl chain the contains less than 6 carbon atoms.
KingdomOrganic compounds
Super ClassOrganic acids and derivatives
ClassKeto acids and derivatives
Sub ClassShort-chain keto acids and derivatives
Direct ParentShort-chain keto acids and derivatives
Alternative Parents
Substituents
  • Branched fatty acid
  • Methyl-branched fatty acid
  • Short-chain keto acid
  • Alpha-keto acid
  • Fatty acyl
  • Alpha-hydroxy ketone
  • Ketone
  • Carboxylic acid derivative
  • Carboxylic acid
  • Monocarboxylic acid or derivatives
  • Carbonyl group
  • Hydrocarbon derivative
  • Organic oxygen compound
  • Organooxygen compound
  • Organic oxide
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Physiological effect

Adverse health effect

Disposition

Biological location

Source

Route of exposure

Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water Solubility915.5 mg/mLNot Available
LogPNot AvailableNot Available
Experimental Spectral PropertiesNot Available
Predicted Molecular Properties
PropertyValueSource
Water Solubility9.86 g/LALOGPS
logP10(1) g/LALOGPS
logP10(1.75) g/LChemAxon
logS10(-1.1) g/LALOGPS
pKa (Strongest Acidic)3.52ChemAxon
pKa (Strongest Basic)-9.7ChemAxon
Physiological Charge-1ChemAxon
Hydrogen Acceptor Count3ChemAxon
Hydrogen Donor Count1ChemAxon
Polar Surface Area54.37 ŲChemAxon
Rotatable Bond Count3ChemAxon
Refractivity31.79 m³·mol⁻¹ChemAxon
Polarizability12.98 ųChemAxon
Number of Rings0ChemAxon
BioavailabilityYesChemAxon
Rule of FiveYesChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Predicted Spectral Properties

Predicted Kovats Retention Indices

Derivatized

Derivative Name / StructureSMILESKovats RI ValueColumn TypeReference
3-Methyl-2-oxovaleric acid,1TMS,#1CC[C@H](C)C(=O)C(=O)O[Si](C)(C)C1150.5Semi standard non polarhttps://arxiv.org/abs/1905.12712
3-Methyl-2-oxovaleric acid,1TMS,#2CCC(C)=C(O[Si](C)(C)C)C(=O)O1205.3Semi standard non polarhttps://arxiv.org/abs/1905.12712
3-Methyl-2-oxovaleric acid,1TBDMS,#1CC[C@H](C)C(=O)C(=O)O[Si](C)(C)C(C)(C)C1366.3Semi standard non polarhttps://arxiv.org/abs/1905.12712
3-Methyl-2-oxovaleric acid,1TBDMS,#2CCC(C)=C(O[Si](C)(C)C(C)(C)C)C(=O)O1464.7Semi standard non polarhttps://arxiv.org/abs/1905.12712
Spectra

GC-MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS)splash10-000i-9610000000-d2ffd4c2796688c555ee2020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (3 TMS)splash10-000i-9720000000-9cbc934e100bedd87f172020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized)splash10-000i-9720000000-5acbdc73aee24c0237632020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized)splash10-000i-6930000000-8c2cf1d8df538010611b2020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid EI-B (Non-derivatized)splash10-000i-6930000000-7bef6751c4c607393e5e2020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid EI-B (Non-derivatized)splash10-0hg9-4950000000-3e1c700a6f553bf63afb2020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-EI-TOF (Non-derivatized)splash10-000i-9610000000-d2ffd4c2796688c555ee2020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-EI-TOF (Non-derivatized)splash10-000i-9720000000-9cbc934e100bedd87f172020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-EI-TOF (Non-derivatized)splash10-000i-9720000000-5acbdc73aee24c0237632020-09-08HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-EI-TOF (Non-derivatized)splash10-000i-6930000000-8c2cf1d8df538010611b2020-09-08HMDB team, MONA, MassBankView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-MS (Non-derivatized) - 70eV, Positivesplash10-056r-9100000000-b8f5074d17649d2ecf262016-09-22Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - 3-Methyl-2-oxovaleric acid GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum

MS/MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Experimental LC-MS/MSLC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid Quattro_QQQ 10V, Positive-QTOF (Annotated)splash10-000w-9300000000-0a6ff60455403c38be392020-09-08HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid Quattro_QQQ 25V, Positive-QTOF (Annotated)splash10-0002-9000000000-7ee6d2fb63c6ea4cccfa2020-09-08HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid Quattro_QQQ 40V, Positive-QTOF (Annotated)splash10-002b-9000000000-47d18dff23b7410295812020-09-08HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid LC-ESI-ITFT , negative-QTOFsplash10-004i-0900000000-ae9da2a9acfa56fc60912020-09-08HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid LC-ESI-IT , negative-QTOFsplash10-004r-5900000000-a3f740a5c859439255be2020-09-08HMDB team, MONAView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 10V, Positive-QTOFsplash10-08gr-8900000000-4655fc2c3f2400debce52016-09-12Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 20V, Positive-QTOFsplash10-0a4r-9100000000-815187e3b65ba46815182016-09-12Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 40V, Positive-QTOFsplash10-0a4i-9000000000-5336f451fc038f8f52e02016-09-12Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 10V, Negative-QTOFsplash10-004r-5900000000-ac576644eaaed74033092016-09-12Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 20V, Negative-QTOFsplash10-01ri-9600000000-665ad7969f567554366d2016-09-12Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 40V, Negative-QTOFsplash10-0aor-9000000000-5ddf098628cacea630002016-09-12Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 10V, Negative-QTOFsplash10-004i-0900000000-b869f38a64c0c2b97fca2021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 20V, Negative-QTOFsplash10-004i-7900000000-fd047f4f444bcf29d6442021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 40V, Negative-QTOFsplash10-0a4i-9000000000-9d9f015d81ffe62b835b2021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 10V, Positive-QTOFsplash10-08gr-9600000000-653f0f404b417cca473f2021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 20V, Positive-QTOFsplash10-0a4i-9000000000-ec479cb60b6749261d762021-09-24Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - 3-Methyl-2-oxovaleric acid 40V, Positive-QTOFsplash10-0a4i-9000000000-95cfabed6b44084d91112021-09-24Wishart LabView Spectrum

NMR Spectra

Spectrum TypeDescriptionDeposition DateSourceView
Predicted 1D NMR1H NMR Spectrum (1D, 100 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 100 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 200 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 200 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 300 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 300 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 400 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 400 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 500 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 500 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 600 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 600 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 700 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 700 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 800 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 800 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 900 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 900 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 1000 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 1000 MHz, D2O, predicted)2021-09-16Wishart LabView Spectrum
Experimental 2D NMR[1H, 13C]-HSQC NMR Spectrum (2D, 600 MHz, H2O, experimental)2020-09-08Wishart LabView Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm
  • Extracellular
  • Membrane
Biospecimen Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Saliva
  • Urine
Tissue Locations
  • Placenta
  • Prostate
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified18.0 (8.0-31.0) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified22.7 +/- 4.6 uMAdult (>18 years old)BothNormal
    • Geigy Scientific ...
details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified2.0 +/- 2.0 uMAdult (>18 years old)BothNormal details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Not Specified
Normal
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Normal
details
UrineDetected and Quantified0-7 umol/mmol creatinineNewborn (0-30 days old)Both
Normal
details
UrineDetected and Quantified0.55-0.95 umol/mmol creatinineAdult (>18 years old)FemaleNormal details
UrineDetected and Quantified6.005 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Normal
    • Mordechai, Hien, ...
details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
UrineDetected and Quantified0.53-0.88 umol/mmol creatinineAdult (>18 years old)MaleNormal details
UrineDetected and Quantified2.2 (0.4-4.8) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified0.3 umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified0.24 (0.11 - 0.55) umol/mmol creatinineAdult (>18 years old)Not SpecifiedNormal details
UrineDetected and Quantified0.54 (0.12 - 1.42) umol/mmol creatinineAdult (>18 years old)FemaleNormal details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MaleNormal details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified368 uMChildren (1-13 years old)Female
Maple syrup urine disease
    • Peritoneal dialys...
details
BloodDetected and Quantified142.0 +/- 9.0 uMAdult (>18 years old)BothMaple syrup urine disease (MSUD) details
Cerebrospinal Fluid (CSF)Detected and Quantified101 uMChildren (1-13 years old)Female
Maple syrup urine disease
    • Peritoneal dialys...
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Colorectal cancer
details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothColorectal Cancer details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Colorectal cancer
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MaleAttachment loss  details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MaleMissing teeth details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MalePeriodontal Probing Depth details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)MaleProsthesis/Missing teeth details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Male
Cardiosvacular risk
details
UrineDetected and Quantified4.333 +/- 3.83 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Eosinophilic esophagitis
    • Mordechai, Hien, ...
details
UrineDetected and Quantified209.0 +/- 35.0 umol/mmol creatinineAdult (>18 years old)BothMaple syrup urine disease (MSUD) details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothBladder cancer details
Associated Disorders and Diseases
Disease References
Maple syrup urine disease
  1. Schadewaldt P, Hammen HW, Ott AC, Wendel U: Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease. J Inherit Metab Dis. 1999 Aug;22(6):706-22. [PubMed:10472531 ]
  2. Wendel, U., Becker, K., Przyrembel, H. et al. (1980). Peritoneal dialysis in maple-syrup-urine disease: Studies on branched-chain amino and keto acids. Eur J Pediatr (1980) 134: 57. https://doi.org/10.1007/BF00442404. Eur J Pediatr.
Colorectal cancer
  1. Brown DG, Rao S, Weir TL, O'Malia J, Bazan M, Brown RJ, Ryan EP: Metabolomics and metabolic pathway networks from human colorectal cancers, adjacent mucosa, and stool. Cancer Metab. 2016 Jun 6;4:11. doi: 10.1186/s40170-016-0151-y. eCollection 2016. [PubMed:27275383 ]
  2. Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016. [PubMed:27015276 ]
  3. Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ]
Attachment loss
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Missing teeth
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Periodontal Probing Depth
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Prosthesis/Missing teeth
  1. Liebsch C, Pitchika V, Pink C, Samietz S, Kastenmuller G, Artati A, Suhre K, Adamski J, Nauck M, Volzke H, Friedrich N, Kocher T, Holtfreter B, Pietzner M: The Saliva Metabolome in Association to Oral Health Status. J Dent Res. 2019 Jun;98(6):642-651. doi: 10.1177/0022034519842853. Epub 2019 Apr 26. [PubMed:31026179 ]
Eosinophilic esophagitis
  1. (). Mordechai, Hien, and David S. Wishart. .
Associated OMIM IDs
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB030164
KNApSAcK IDNot Available
Chemspider ID388419
KEGG Compound IDC00671
BioCyc ID2-KETO-3-METHYL-VALERATE
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN ID5478
PubChem Compound439286
PDB IDNot Available
ChEBI ID15614
Food Biomarker OntologyNot Available
VMH IDNot Available
MarkerDB IDMDB00000175
Good Scents IDNot Available
References
Synthesis ReferenceKondo, Shigeo; Sudo, Tetsuji; Ogiwara, Mitsuo; Takeuchi, Hiroshi. a-Oxo-b-methyl-n-valeric acid and its salts. Jpn. Kokai Tokkyo Koho (1979), 3 pp.
Material Safety Data Sheet (MSDS)Download (PDF)
General References
  1. Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762. [PubMed:19212411 ]
  2. Wendel U, Even G, Langenbeck U, Schadewaldt P, Hummel W: Determination of (S)- and (R)-2-oxo-3-methylvaleric acid in plasma of patients with maple syrup urine disease. Clin Chim Acta. 1992 Jun 15;208(1-2):85-91. [PubMed:1638756 ]
  3. Przyrembel H, Bremer HJ, Duran M, Bruinvis L, Ketting D, Wadman SK, Baumgartner R, Irle U, Bachmann C: Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels. Eur J Pediatr. 1979 Jan 18;130(1):1-14. [PubMed:759179 ]
  4. Yudkoff M, Daikhin Y, Nissim I, Horyn O, Luhovyy B, Lazarow A, Nissim I: Brain amino acid requirements and toxicity: the example of leucine. J Nutr. 2005 Jun;135(6 Suppl):1531S-8S. [PubMed:15930465 ]
  5. 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 ]

Enzymes

General function:
Involved in catalytic activity
Specific function:
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
Gene Name:
BCKDHB
Uniprot ID:
P21953
Molecular weight:
43122.065
Reactions
3-Methyl-2-oxovaleric acid + Thiamine pyrophosphate → 2-Methyl-1-hydroxybutyl-ThPP + Carbon dioxidedetails
General function:
Involved in oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor
Specific function:
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
Gene Name:
BCKDHA
Uniprot ID:
P12694
Molecular weight:
50470.58
Reactions
3-Methyl-2-oxovaleric acid + Thiamine pyrophosphate → 2-Methyl-1-hydroxybutyl-ThPP + Carbon dioxidedetails
General function:
Involved in catalytic activity
Specific function:
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.
Gene Name:
BCAT1
Uniprot ID:
P54687
Molecular weight:
38644.77
Reactions
L-Isoleucine + Oxoglutaric acid → 3-Methyl-2-oxovaleric acid + L-Glutamic aciddetails
General function:
Involved in catalytic activity
Specific function:
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. May also function as a transporter of branched chain alpha-keto acids.
Gene Name:
BCAT2
Uniprot ID:
O15382
Molecular weight:
33776.315
Reactions
L-Isoleucine + Oxoglutaric acid → 3-Methyl-2-oxovaleric acid + L-Glutamic aciddetails
General function:
Involved in oxidoreductase activity
Specific function:
Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity).
Gene Name:
IL4I1
Uniprot ID:
Q96RQ9
Molecular weight:
65327.26
Reactions
L-Isoleucine + Water + Oxygen → 3-Methyl-2-oxovaleric acid + Ammonia + Hydrogen peroxidedetails