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Human Metabolome Database Version 3.5

Showing metabocard for Ethylmalonic acid (HMDB00622)

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

• Blood
• Urine

Record Information
Version	3.5
Creation Date	2005-11-16 08:48:42 -0700
Update Date	2013-02-08 17:08:57 -0700
HMDB ID	HMDB00622
Secondary Accession Numbers	None
Metabolite Identification
Common Name	Ethylmalonic acid
Description	Ethylmalonic acid is identified in the urine of patients with short-chain acyl-coenzyme A dehydrogenase deficiency, which is a fatty acid metabolism disorder.
Structure	Download: MOL | SDF | SMILES | InChI Display: 2D Structure | 3D Structure
Synonyms	1,1-Propanedicarboxylate 1,1-Propanedicarboxylic acid a-Carboxybutyrate a-Carboxybutyric acid alpha-Carboxybutyrate alpha-Carboxybutyric acid Ethyl-Malonic acid Ethylmalonate Ethylmalonic acid
Chemical Formula	C5H8O4
Average Molecular Weight	132.1146
Monoisotopic Molecular Weight	132.042258744
IUPAC Name	2-ethylpropanedioic acid
Traditional IUPAC Name	ethylmalonic acid
CAS Registry Number	601-75-2
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 Key	UKFXDFUAPNAMPJ-UHFFFAOYSA-N
Chemical Taxonomy
Kingdom	Organic Compounds
Super Class	Lipids
Class	Fatty Acids and Conjugates
Sub Class	Branched Fatty Acids
Other Descriptors	Aliphatic Acyclic Compounds Dicarboxylic acids(Lipidmaps) Organic Compounds dicarboxylic acid(ChEBI)
Substituents	Carboxylic Acid Dicarboxylic Acid Derivative
Direct Parent	Branched Fatty Acids
Ontology
Status	Detected and Quantified
Origin	Endogenous Food
Biofunction	Cell signaling Fuel and energy storage Fuel or energy source Membrane integrity/stability
Application	Nutrients Stabilizers Surfactants and Emulsifiers
Cellular locations	Extracellular Membrane
Physical Properties
State	Liquid
Experimental Properties	Property Value Reference Melting Point 112 - 114 °C Not Available Boiling Point Not Available Not Available Water Solubility 712.0 mg/mL Not Available LogP Not Available Not Available
Predicted Properties	Property Value Source Water Solubility 94.1 g/L ALOGPS LogP 0.43 ALOGPS LogP 0.66 ChemAxon LogS -0.15 ALOGPS pKa (strongest acidic) 2.5 ChemAxon Hydrogen Acceptor Count 4 ChemAxon Hydrogen Donor Count 2 ChemAxon Polar Surface Area 74.6 A2 ChemAxon Rotatable Bond Count 3 ChemAxon Refractivity 28.16 ChemAxon Polarizability 11.98 ChemAxon Formal Charge 0 ChemAxon Physiological Charge -2 ChemAxon
Spectra
	Gas-MS Spectrum 1H NMR Spectrum MS/MS Spectrum Quattro_QQQ 10 MS/MS Spectrum Quattro_QQQ 25 MS/MS Spectrum Quattro_QQQ 40 MS/MS Spectrum GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies ) [1H,13C] 2D NMR Spectrum
Biological Properties
Cellular Locations	Extracellular Membrane
Biofluid Locations	Blood Cerebrospinal Fluid (CSF) Urine
Tissue Location	Skeletal Muscle Fibroblasts Prostate
Pathways	Not Available
Normal Concentrations
	Biofluid Status Value Age Sex Condition Comments Blood Expected and not Quantified Not Applicable Not Available Not Available Normal Inferred from detection in urine Cerebrospinal Fluid (CSF) Detected and Quantified 0.84(0.15-0.69) uM Children (1-13 year old) Both Normal Not Available Urine Detected and Quantified 1.16-2.99 umol/mmol creatinine Adult (>18 years old) Both Normal Not Available Urine Detected and Quantified 1.3 +/- 2.8 umol/mmol creatinine Adolescent (13-18 years old) Female Normal Not Available Urine Detected and Quantified 5.5 (0.1-18.6) umol/mmol creatinine Newborn (0-30 days old) Both Normal Not Available Urine Detected and Quantified 3.3 (0.1-11.0) umol/mmol creatinine Infant (0-1 year old) Both Normal Not Available Urine Detected and Quantified 4.8 (0.1-17.9) umol/mmol creatinine Children (1-13 year old) Both Normal Children aged 2-6 years Urine Detected and Quantified 2.9 (0.8-5.3) umol/mmol creatinine Children (1-13 year old) Both Normal Children aged 6-10 years Urine Detected and Quantified 2.2 (0.2-6.6) umol/mmol creatinine Adolescent (13-18 years old) Both Normal Children >10 years old Urine Detected and not Quantified Not Applicable Adult (>18 years old) Both Normal Not Available Urine Detected and Quantified 3.64 +/- 0.80 umol/mmol creatinine Children (1-13 year old) Both Normal Not Available Urine Detected and Quantified 0.14 +/- 0.27 umol/mmol creatinine Infant (0-1 year old) Both Normal Not Available Urine Detected and not Quantified Not Applicable Adult (>18 years old) Both Normal Urine compound detected by GC-MS Urine Detected and Quantified 2.0 (0.5-3.95) umol/mmol creatinine Adult (>18 years old) Both Normal Not Available Urine Detected and Quantified 20.0 (0.0-40.0) umol/mmol creatinine Children (1-13 year old) Both Normal Not Available Urine Detected and Quantified 2.5 (0.4-4.2) umol/mmol creatinine Adult (>18 years old) Both Normal Not Available Urine Detected and Quantified 3.0 (1.2-5.8) umol/mmol creatinine Adult (>18 years old) Both Normal urine by NMR Urine Detected and Quantified 2.4 (0.9-4.0) umol/mmol creatinine Adult (>18 years old) Both Normal by GC-MS
Abnormal Concentrations
	Biofluid Status Value Age Sex Condition Comments Urine Detected and Quantified 7.1 +/- 4.4 umol/mmol creatinine Adult (>18 years old) Female Anorexia nervosa Not Available Urine Detected and Quantified 665.00 (180.00-1150.00) umol/mmol creatinine Adult (>18 years old) Both Malonyl CoA decarboxylase deficiency Not Available Urine Detected and Quantified 11.76 +/- 4.21 umol/mmol creatinine Children (1-13 year old) Both Severely malnourished children Not Available
Associated Disorders and Diseases
Disease References	Anorexia nervosa 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 http://www.metagene.de/program/d.prg?mp=MALONYL-COA%20DECARBOXYLASE%20DEFICIENCY
Associated OMIM IDs	606788 (Anorexia nervosa) 248360 (Malonyl-Coa decarboxylase deficiency)
External Links
DrugBank ID	Not Available
Phenol Explorer Compound ID	Not Available
Phenol Explorer Metabolite ID	Not Available
FoodDB ID	FDB022147
KNApSAcK ID	Not Available
Chemspider ID	11263
KEGG Compound ID	Not Available
BioCyc ID	Not Available
BiGG ID	Not Available
Wikipedia Link	Not Available
NuGOwiki Link	HMDB00622
Metagene Link	HMDB00622
METLIN ID	4180
PubChem Compound	11756
PDB ID	Not Available
ChEBI ID	741548
References
Synthesis Reference	Zakharova, 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	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 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 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 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 Tanaka K, Ramsdell HS, Baretz BH, Keefe MB, Kean EA, Johnson B: Identification of ethylmalonic acid in urine of two patients with the vomitting sickness of Jamaica. Clin Chim Acta. 1976 May 17;69(1):105-12. Pubmed: 1269146 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 Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen N, Corydon MJ, Waterham HR, Duran M: Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics. 2003 Nov;112(5):1152-5. Pubmed: 14595061 Barschak AG, Ferreira Gda C, Andre KR, Schuck PF, Viegas CM, Tonin A, Dutra Filho CS, Wyse AT, Wannmacher CM, Vargas CR, Wajner M: Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle. Metab Brain Dis. 2006 Mar;21(1):11-9. Epub 2006 Apr 28. Pubmed: 16773466 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. Pubmed: 19212411

This project is supported by Genome Alberta & Genome Canada, a not-for-profit organization that is leading Canada's national genomics strategy with $600 million in funding from the federal government.