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Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2020-10-09 20:59:56 UTC
HMDB IDHMDB0000622
Secondary Accession Numbers
  • HMDB00622
Metabolite Identification
Common NameEthylmalonic acid
DescriptionEthylmalonic acid, also known as alpha-carboxybutyric acid or ethylmalonate, is a member of the class of compounds known as branched fatty acids. Branched fatty acids are fatty acids containing one or more branched chains. Ethylmalonic acid is soluble (in water) and a moderately acidic compound (based on its pKa). Ethylmalonic acid can be synthesized from malonic acid, and can be synthesized into (S)-ethylmalonyl-CoA and (R)-ethylmalonyl-CoA. Ethylmalonic acid can be found in blood, cerebrospinal fluid (CSF), and urine, as well as in human fibroblasts, prostate, and skeletal muscle tissues. Moreover, ethylmalonic acid is found to be associated with anorexia nervosa and malonyl-CoA decarboxylase deficiency. Ethylmalonic acid is a non-carcinogenic (not listed by IARC) potentially toxic compound. Chronically high levels of ethylmalonic acid are associated with at least two inborn errors of metabolism, including short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) and ethylmalonic encephalopathy. Ethylmalonic acid is identified in the urine of patients with short-chain acyl-CoA dehydrogenase deficiency, which is a fatty acid metabolism disorder. When present at sufficiently high levels, ethylmalonic acid can act as an acidogen and a metabotoxin. 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. Ethylmalonic acid is an organic acid. 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 abnormalities, kidney abnormalities, liver damage, seizures, coma, and possibly death. These are also the characteristic symptoms of the untreated IEMs mentioned above. Many affected children with organic acidemias experience intellectual disability or delayed development. In adults, acidosis or acidemia is characterized by headaches, confusion, feeling tired, tremors, sleepiness, and seizures.
Structure
Data?1584455496
Synonyms
ValueSource
1,1-Propanedicarboxylic acidChEBI
2-Ethylmalonic acidChEBI
alpha-Carboxybutyric acidChEBI
1,1-PropanedicarboxylateGenerator
2-EthylmalonateGenerator
a-CarboxybutyrateGenerator
a-Carboxybutyric acidGenerator
alpha-CarboxybutyrateGenerator
Α-carboxybutyrateGenerator
Α-carboxybutyric acidGenerator
EthylmalonateGenerator
Ethyl-malonic acidHMDB
2-Ethylpropanedioic acidHMDB
Ethylmalonic acidHMDB
Chemical FormulaC5H8O4
Average Molecular Weight132.1146
Monoisotopic Molecular Weight132.042258744
IUPAC Name2-ethylpropanedioic acid
Traditional Nameethylmalonic acid
CAS Registry Number601-75-2
SMILES
CCC(C(O)=O)C(O)=O
InChI Identifier
InChI=1S/C5H8O4/c1-2-3(4(6)7)5(8)9/h3H,2H2,1H3,(H,6,7)(H,8,9)
InChI KeyUKFXDFUAPNAMPJ-UHFFFAOYSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as branched fatty acids. These are fatty acids containing a branched chain.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassFatty Acyls
Sub ClassFatty acids and conjugates
Direct ParentBranched fatty acids
Alternative Parents
Substituents
  • Branched fatty acid
  • 1,3-dicarbonyl compound
  • Dicarboxylic acid or derivatives
  • Carboxylic acid
  • Carboxylic acid derivative
  • Organic oxygen compound
  • Organic oxide
  • Hydrocarbon derivative
  • Organooxygen compound
  • Carbonyl group
  • 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 Point112 - 114 °CNot Available
Boiling PointNot AvailableNot Available
Water Solubility712 mg/mLNot Available
LogPNot AvailableNot Available
Experimental Spectral PropertiesNot Available
Predicted Molecular Properties
PropertyValueSource
Water Solubility94.1 g/LALOGPS
logP10(0.43) g/LALOGPS
logP10(0.66) g/LChemAxon
logS10(-0.15) g/LALOGPS
pKa (Strongest Acidic)2.5ChemAxon
Physiological Charge-2ChemAxon
Hydrogen Acceptor Count4ChemAxon
Hydrogen Donor Count2ChemAxon
Polar Surface Area74.6 ŲChemAxon
Rotatable Bond Count3ChemAxon
Refractivity28.16 m³·mol⁻¹ChemAxon
Polarizability11.98 ųChemAxon
Number of Rings0ChemAxon
BioavailabilityYesChemAxon
Rule of FiveYesChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Predicted Spectral Properties

Predicted Collision Cross Sections

PredictorAdduct TypeCCS Value (Å2)Reference
DarkChem[M+H]+128.85631661259
DarkChem[M-H]-126.19731661259
AllCCS[M+H]+131.55432859911
AllCCS[M-H]-124.1232859911

Predicted Kovats Retention Indices

Derivatized

Derivative Name / StructureSMILESKovats RI ValueColumn TypeReference
Ethylmalonic acid,1TMS,#1CCC(C(=O)O)C(=O)O[Si](C)(C)C1199.2Semi standard non polarhttps://arxiv.org/abs/1905.12712
Ethylmalonic acid,2TMS,#1CCC(C(=O)O[Si](C)(C)C)C(=O)O[Si](C)(C)C1286.5Semi standard non polarhttps://arxiv.org/abs/1905.12712
Ethylmalonic acid,1TBDMS,#1CCC(C(=O)O)C(=O)O[Si](C)(C)C(C)(C)C1425.3Semi standard non polarhttps://arxiv.org/abs/1905.12712
Ethylmalonic acid,2TBDMS,#1CCC(C(=O)O[Si](C)(C)C(C)(C)C)C(=O)O[Si](C)(C)C(C)(C)C1725.2Semi standard non polarhttps://arxiv.org/abs/1905.12712
Spectra

GC-MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Experimental GC-MSGC-MS Spectrum - Ethylmalonic acid GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized)splash10-0002-0910000000-ff684346010454e439ec2014-06-16HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - Ethylmalonic acid EI-B (Non-derivatized)splash10-0gvx-9100000000-9713da0bdd2cd0b28eba2017-09-12HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - Ethylmalonic acid EI-B (Non-derivatized)splash10-0002-0920000000-c6908d036ed13e7ba5192017-09-12HMDB team, MONA, MassBankView Spectrum
Experimental GC-MSGC-MS Spectrum - Ethylmalonic acid GC-EI-TOF (Non-derivatized)splash10-0002-0910000000-ff684346010454e439ec2017-09-12HMDB team, MONA, MassBankView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Ethylmalonic acid GC-MS (Non-derivatized) - 70eV, Positivesplash10-004u-9400000000-c51992693b05221f3a8a2017-09-01Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Ethylmalonic acid GC-MS (2 TMS) - 70eV, Positivesplash10-00dr-9220000000-10ce85512076eaa6afde2017-10-06Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - Ethylmalonic acid GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum
MSMass Spectrum (Electron Ionization)splash10-0udr-9300000000-e531a154ddaf695ebe5b2014-09-20Not AvailableView Spectrum

MS/MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid Quattro_QQQ 10V, Negative-QTOF (Annotated)splash10-000l-9000000000-ed08eca90f357944aee92012-07-24HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid Quattro_QQQ 25V, Negative-QTOF (Annotated)splash10-0006-9000000000-b6e83c7aef56876fa1b32012-07-24HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid Quattro_QQQ 40V, Negative-QTOF (Annotated)splash10-0006-9000000000-409423c1bfecc553b24e2012-07-24HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid , negative-QTOFsplash10-000i-9000000000-d15979561ae10b3c94df2017-09-14HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid 10V, Negative-QTOFsplash10-000i-9000000000-6cd825b16df28e77024a2021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid 20V, Negative-QTOFsplash10-00kr-9000000000-32cc5c19f1f63ea75c172021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid 40V, Negative-QTOFsplash10-0gb9-9000000000-c8fadac6a17104d7abf62021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid 35V, Negative-QTOFsplash10-000i-9000000000-e7765d86ee8d74f0f9d62021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - Ethylmalonic acid 35V, Negative-QTOFsplash10-000i-9000000000-4086dd4566bac56688a92021-09-20HMDB team, MONAView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 10V, Positive-QTOFsplash10-00lr-3900000000-7ad5e5da82f0646b39db2017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 20V, Positive-QTOFsplash10-014i-9600000000-00a7e2649b402719b2fa2017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 40V, Positive-QTOFsplash10-00kf-9000000000-6cd3362f5cdb53773ce82017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 10V, Negative-QTOFsplash10-0019-9400000000-257e80506d0172d05d982017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 20V, Negative-QTOFsplash10-000l-9000000000-e79d02ff9ead3516adaa2017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 40V, Negative-QTOFsplash10-0006-9000000000-c55403c45b1243b9628e2017-09-01Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 10V, Positive-QTOFsplash10-00ku-9100000000-bf24e61d0219e165c8de2021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 20V, Positive-QTOFsplash10-014i-9000000000-f4c23282a114d4982d2d2021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 40V, Positive-QTOFsplash10-0006-9000000000-5a0f73206eec5978645d2021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 10V, Negative-QTOFsplash10-000i-9300000000-fec5eeeb4f241984f7872021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 20V, Negative-QTOFsplash10-014r-9000000000-08c6ded2366ed022deab2021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - Ethylmalonic acid 40V, Negative-QTOFsplash10-014i-9000000000-76b92022e3a050e0fb1e2021-09-22Wishart LabView Spectrum

NMR Spectra

Spectrum TypeDescriptionDeposition DateSourceView
Experimental 2D NMR[1H, 13C]-HSQC NMR Spectrum (2D, 600 MHz, H2O, experimental)2012-12-05Wishart LabView Spectrum
Biological Properties
Cellular Locations
  • Extracellular
  • Membrane
Biospecimen Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Urine
Tissue Locations
  • Fibroblasts
  • Placenta
  • Prostate
  • Skeletal Muscle
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodExpected but not QuantifiedNot QuantifiedNot AvailableNot Available
Normal
      Not Available
details
Cerebrospinal Fluid (CSF)Detected and Quantified0.84 (0.15-0.69) uMChildren (1-13 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
UrineDetected and Quantified20-40 umol/mmol creatinineNewborn (0-30 days old)Both
Normal
details
UrineDetected and Quantified1.16-2.99 umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified1.3 +/- 2.8 umol/mmol creatinineAdolescent (13-18 years old)FemaleNormal details
UrineDetected and Quantified2.053 +/- 1.16 umol/mmol creatinineAdult (>18 years old)BothNot Available details
UrineDetected and Quantified5.5 (0.1-18.6) umol/mmol creatinineNewborn (0-30 days old)BothNormal details
UrineDetected and Quantified3.3 (0.1-11.0) umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified4.8 (0.1-17.9) umol/mmol creatinineChildren (1-13 years old)Both
Normal
details
UrineDetected and Quantified2.9 (0.8-5.3) umol/mmol creatinineChildren (1-13 years old)Both
Normal
details
UrineDetected and Quantified2.2 (0.2-6.6) umol/mmol creatinineAdolescent (13-18 years old)Both
Normal
details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
UrineDetected and Quantified3.64 +/- 0.80 umol/mmol creatinineChildren (1-13 years old)BothNormal details
UrineDetected and Quantified0.14 +/- 0.27 umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified1.9-3.1 umol/mmol creatinineAdult (>18 years old)FemaleNormal details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified2.0 (0.5-3.95) umol/mmol creatinineAdult (>18 years old)BothNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified20.0 (0.0-40.0) umol/mmol creatinineChildren (1-13 years old)BothNormal
    • Geigy Scientific ...
details
UrineDetected and Quantified1.6-3.8 umol/mmol creatinineInfant (0-1 year old)Female
Normal
details
UrineDetected and Quantified2-7.0 umol/mmol creatinineInfant (0-1 year old)Male
Normal
details
UrineDetected and Quantified2-7.1 umol/mmol creatinineInfant (0-1 year old)Male
Normal
details
UrineDetected and Quantified2.5-6.3 umol/mmol creatinineInfant (0-1 year old)Female
Normal
details
UrineDetected and Quantified2.5 (0.4-4.2) umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified<11.08 umol/mmol creatinineChildren (1 - 18 years old)Both
Normal
    • BC Children's Hos...
details
UrineDetected and Quantified<10 umol/mmol creatinineChildren (1-13 years old)BothNormal details
UrineDetected and Quantified<20.0 umol/mmol creatinineChildren (1-13 years old)MaleNormal details
UrineDetected and Quantified<3.392 umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified1-5 umol/mmol creatinineChildren (1 - 13 years old)BothNormal details
UrineDetected and Quantified8.1 +/- 5.6 (0.5-20.2) umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified3.0 (1.2-5.8) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified1.5-2.6 umol/mmol creatinineAdult (>18 years old)MaleNormal details
UrineDetected and Quantified6.946 +/- 4.98 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Normal
    • Mordechai, Hien, ...
details
UrineDetected and Quantified0.012 +/- 0.00 umol/mmol creatinineNewborn (0-30 days old)Both
Normal
details
UrineDetected and Quantified197.916 +/- 168.118 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Normal
    • Mordechai, Hien, ...
details
UrineDetected and Quantified2.4 (0.9-4.0) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified<3.392 umol/mmol creatinineNewborn (0-30 days old)FemaleNormal details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
UrineDetected and Quantified2.567-10.269 umol/mmol creatinineNewborn (0-30 days old)BothIsobutyryl-CoA Dehydrogenase Deficiency details
UrineDetected and Quantified9.413-16.260 umol/mmol creatinineInfant (0-1 year old)MaleIsobutyryl-CoA Dehydrogenase Deficiency details
UrineDetected and Quantified34.231-1012.319 umol/mmol creatinineNewborn (0-30 days old)Not SpecifiedShort Chain Acyl-Coa Dehydrogenase Deficiency details
UrineDetected and Quantified7.1 +/- 4.4 umol/mmol creatinineAdult (>18 years old)FemaleAnorexia nervosa details
UrineDetected and Quantified49.2 umol/mmol creatinineChildren (1-13 years old)MaleEthylmalonic encephalopathy details
UrineDetected and Quantified182.0266-1152.0814 umol/mmol creatinineInfant (0-1 year old)Female
Short chain acyl-CoA dehydrogenase deficiency (SCAD)
details
UrineDetected and Quantified2-39 umol/mmol creatinineChildren (1 - 13 years old)BothMedium Chain Acyl-CoA Dehydrogenase Deficiency details
UrineDetected and Quantified6-53 umol/mmol creatinineChildren (1-13 years old)MaleMalonyl-CoA decarboxylase deficiency details
UrineDetected and Quantified8-3900 umol/mmol creatinineInfant (0-1 year old)Both
Short chain acyl-CoA Dehydrogenase deficiency (SCAD)
details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothBladder cancer details
UrineDetected and Quantified7.649 +/- 5.821 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Eosinophilic esophagitis
    • Mordechai, Hien, ...
details
UrineDetected and Quantified38 umol/mmol creatinineChildren (1-13 years old)Male3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency details
UrineDetected and Quantified243.043 +/- 176.552 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Eosinophilic esophagitis
    • Mordechai, Hien, ...
details
UrineDetected and Quantified218.665 +/- 89.032 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Gastroesophageal reflux disease
    • Mordechai, Hien, ...
details
UrineDetected and Quantified665.00 (180.00-1150.00) umol/mmol creatinineChildren (1-13 years old)BothMalonyl-CoA decarboxylase deficiency
    • MetaGene: Metabol...
details
UrineDetected and Quantified11.76 +/- 4.21 umol/mmol creatinineChildren (1-13 years old)BothMalnutrition (type kwashiorkor and marasmus) details
UrineDetected and Quantified182.0266-1152.0814 umol/mmol creatinineNewborn (0-30 days old)FemaleShort Chain Acyl-Coa Dehydrogenase Deficiency details
Associated Disorders and Diseases
Disease References
Anorexia nervosa
  1. Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed:10197568 ]
Malonyl-Coa decarboxylase deficiency
  1. Yano S, Sweetman L, Thorburn DR, Mofidi S, Williams JC: A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. Eur J Pediatr. 1997 May;156(5):382-3. [PubMed:9177981 ]
  2. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Eosinophilic esophagitis
  1. (). Mordechai, Hien, and David S. Wishart. .
Ethylmalonic encephalopathy
  1. Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V: A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Mol Genet Metab. 2006 Dec;89(4):395-7. Epub 2006 Jul 7. [PubMed:16828325 ]
Short Chain Acyl-Coa Dehydrogenase Deficiency
  1. Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, Teel L, Rhead WJ: Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest. 1987 May;79(5):1303-9. [PubMed:3571488 ]
  2. Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE: Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1995 Jun;126(6):910-5. [PubMed:7776094 ]
  3. Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D: Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097GIM.0b013e31802f78d6. [PubMed:17304052 ]
Medium Chain Acyl-CoA Dehydrogenase Deficiency
  1. Gregersen N, Kolvraa S, Rasmussen K, Mortensen PB, Divry P, David M, Hobolth N: General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases. Clin Chim Acta. 1983 Aug 15;132(2):181-91. [PubMed:6616873 ]
3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
  1. Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA: Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med. 1997 Oct 23;337(17):1203-7. doi: 10.1056/NEJM199710233371704. [PubMed:9337379 ]
Isobutyryl-CoA Dehydrogenase Deficiency
  1. Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D: Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097GIM.0b013e31802f78d6. [PubMed:17304052 ]
Associated OMIM IDs
  • 606788 (Anorexia nervosa)
  • 248360 (Malonyl-Coa decarboxylase deficiency)
  • 610247 (Eosinophilic esophagitis)
  • 602473 (Ethylmalonic encephalopathy)
  • 201450 (Medium Chain Acyl-CoA Dehydrogenase Deficiency)
  • 605911 (3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency)
  • 611283 (Isobutyryl-CoA Dehydrogenase Deficiency)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022147
KNApSAcK IDC00052274
Chemspider ID11263
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN ID4180
PubChem Compound11756
PDB IDNot Available
ChEBI ID741548
Food Biomarker OntologyNot Available
VMH IDETHMALAC
MarkerDB IDMDB00000204
Good Scents IDrw1246381
References
Synthesis ReferenceZakharova, T. V.; Ternovaya, T. V.; Pirkes, S. B.; Kostromina, N. A. Study of complexing in the neodymium-ethylmalonic acid system by a spectrographic method. Zhurnal Neorganicheskoi Khimii (1979), 24(7), 1827-31.
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. Guneral F, Bachmann C: Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem. 1994 Jun;40(6):862-6. [PubMed:8087979 ]
  3. Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M: Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004 Feb;74(2):239-52. Epub 2004 Jan 19. [PubMed:14732903 ]
  4. McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ: The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol. 2004 Apr;61(4):570-4. [PubMed:15096407 ]
  5. Birkebaek NH, Simonsen H, Gregersen N: Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. Acta Paediatr. 2002;91(4):480-2. [PubMed:12061367 ]
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