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Human Metabolome Database Version 3.5

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Showing metabocard for Methylmalonic acid (HMDB00202)

Record Information
Version 3.5
Creation Date 2005-11-16 08:48:42 -0700
Update Date 2013-02-08 17:08:04 -0700
HMDB ID HMDB00202
Secondary Accession Numbers None
Metabolite Identification
Common Name Methylmalonic acid
Description Methylmalonic acid is a malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
Structure Thumb
Download: MOL | SDF | SMILES | InChI
Display: 2D Structure | 3D Structure
Synonyms
  1. 1,1-Ethanedicarboxylate
  2. 1,1-Ethanedicarboxylic acid
  3. 2-Methylmalonate
  4. 2-Methylmalonic acid
  5. Isosuccinate
  6. Isosuccinic acid
  7. Methyl-Malonate
  8. Methyl-Malonic acid
  9. Methyl-Propanedioate
  10. Methyl-Propanedioic acid
  11. Methylmalonate
  12. Methylmalonic acid
  13. Methylpropanedioate
  14. Methylpropanedioic acid
Chemical Formula C4H6O4
Average Molecular Weight 118.088
Monoisotopic Molecular Weight 118.02660868
IUPAC Name 2-methylpropanedioic acid
Traditional IUPAC Name methylmalonic acid
CAS Registry Number 516-05-2
SMILES CC(C(O)=O)C(O)=O
InChI Identifier InChI=1S/C4H6O4/c1-2(3(5)6)4(7)8/h2H,1H3,(H,5,6)(H,7,8)
InChI Key ZIYVHBGGAOATLY-UHFFFAOYSA-N
Chemical Taxonomy
Kingdom Organic Compounds
Super Class Organic Acids and Derivatives
Class Carboxylic Acids and Derivatives
Sub Class Dicarboxylic Acids and Derivatives
Other Descriptors
  • Aliphatic Acyclic Compounds
  • Dicarboxylic acids(Lipidmaps)
  • dicarboxylic acid(ChEBI)
Substituents
  • Carboxylic Acid
Direct Parent Dicarboxylic Acids and Derivatives
Ontology
Status Detected and Quantified
Origin
  • Endogenous
Biofunction Not Available
Application Not Available
Cellular locations
  • Cytoplasm (predicted from logP)
Physical Properties
State Solid
Experimental Properties
Property Value Reference
Melting Point 135 °C Not Available
Boiling Point Not Available Not Available
Water Solubility 679.0 mg/mL Not Available
LogP Not Available Not Available
Predicted Properties
Property Value Source
Water Solubility 149 g/L ALOGPS
LogP 0.17 ALOGPS
LogP 0.21 ChemAxon
LogS 0.10 ALOGPS
pKa (strongest acidic) 2.48 ChemAxon
Hydrogen Acceptor Count 4 ChemAxon
Hydrogen Donor Count 2 ChemAxon
Polar Surface Area 74.6 A2 ChemAxon
Rotatable Bond Count 2 ChemAxon
Refractivity 23.56 ChemAxon
Polarizability 10.06 ChemAxon
Formal Charge 0 ChemAxon
Physiological Charge -2 ChemAxon
Spectra
Gas-MS Spectrum
1H NMR Spectrum
13C NMR Spectrum
MS/MS Spectrum Quattro_QQQ 10
MS/MS Spectrum Quattro_QQQ 25
MS/MS Spectrum Quattro_QQQ 40
MS/MS Spectrum LC-ESI-QQ (API3000, Applied Biosystems) 10
MS/MS Spectrum LC-ESI-QQ (API3000, Applied Biosystems) 20
MS/MS Spectrum LC-ESI-QQ (API3000, Applied Biosystems) 30
MS/MS Spectrum LC-ESI-QQ (API3000, Applied Biosystems) 40
MS/MS Spectrum LC-ESI-QQ (API3000, Applied Biosystems) 50
MS/MS Spectrum GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies)
MS/MS Spectrum GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies)
MS/MS Spectrum GC-MS
MS/MS Spectrum GC-MS
[1H,13C] 2D NMR Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm (predicted from logP)
Biofluid Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Urine
Tissue Location
  • Kidney
  • Liver
Pathways
Name SMPDB Link KEGG Link
Valine, Leucine and Isoleucine Degradation SMP00032 map00280 Link_out
Propanoate Metabolism SMP00016 map00640 Link_out
Normal Concentrations
Biofluid Status Value Age Sex Condition Comments
Blood Detected and Quantified
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0.14 (0.04-0.26) uM Adult (>18 years old) Both Normal Not Available
Blood Detected and Quantified
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0.187 +/- 0.084 uM Adult (>18 years old) Both Normal Not Available
Blood Detected and Quantified
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0.17 (0.073-0.27) uM Adult (>18 years old) Both Normal Not Available
Blood Detected and Quantified
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0.200 (0.00-0.400) uM Adult (>18 years old) Not Specified Normal Not Available
Cerebrospinal Fluid (CSF) Detected and Quantified
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0.40 (0.16-0.59) uM Adult (>18 years old) Both Normal Not Available
Cerebrospinal Fluid (CSF) Detected and Quantified
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0.51 +/- 0.13 uM Adult (>18 years old) Both Normal Not Available
Cerebrospinal Fluid (CSF) Detected and Quantified
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0.32 +/- 0.11 uM Adult (>18 years old) Both Normal Not Available
Urine Detected and not Quantified
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Not Applicable Adult (>18 years old) Both Normal Not Available
Urine Detected and Quantified
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0.92 +/- 1.97 umol/mmol creatinine Infant (0-1 year old) Both Normal Not Available
Urine Detected and not Quantified
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Not Applicable Adult (>18 years old) Both Normal Urine compound detected by GC-MS
Urine Detected and not Quantified
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Not Applicable Adult (>18 years old) Both Normal Not Available
Urine Detected and Quantified
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1.58 (0.0-3.29) umol/mmol creatinine Adult (>18 years old) Both Normal Not Available
Urine Detected and Quantified
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2.0 +/- 0.7 umol/mmol creatinine Newborn (0-30 days old) Both Normal Not Available
Urine Detected and Quantified
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4.0 +/- 0.9 umol/mmol creatinine Children (1-13 year old) Both Normal Not Available
Urine Detected and Quantified
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1.8 (0.00-3.6) umol/mmol creatinine Adult (>18 years old) Both Normal Not Available
Urine Detected and Quantified
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2.50 umol/mmol creatinine Adult (>18 years old) Male Normal Not Available
Urine Detected and Quantified
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1.9 (0.7-3.5) umol/mmol creatinine Adult (>18 years old) Both Normal urine by NMR
Urine Detected and Quantified
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0.64 +/- 0.39 umol/mmol creatinine Children (1-13 year old) Both Normal Not Available
Urine Detected and Quantified
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0.17 +/- 0.11 umol/mmol creatinine Adolescent (13-18 years old) Both Normal Not Available
Urine Detected and Quantified
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2.51 +/- 1.01 umol/mmol creatinine Adult (>18 years old) Both Normal Not Available
Urine Detected and Quantified
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1.6 (0-3.60) umol/mmol creatinine Adult (>18 years old) Not Specified Normal Not Available
Urine Detected and Quantified
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9.4 (0.1-79.4) umol/mmol creatinine Newborn (0-30 days old) Both Normal Not Available
Urine Detected and Quantified
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29.9 (0.1-78.9) umol/mmol creatinine Infant (0-1 year old) Both Normal Not Available
Urine Detected and Quantified
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8.2 (1.5-30.8) umol/mmol creatinine Children (1-13 year old) Both Normal Not Available
Urine Detected and Quantified
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3.7 (1.1-21.6) umol/mmol creatinine Adolescent (13-18 years old) Both Normal Not Available
Urine Detected and Quantified
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1.3 (0.5-2.1) umol/mmol creatinine Adult (>18 years old) Both Normal by GC-MS
Abnormal Concentrations
Biofluid Status Value Age Sex Condition Comments
Blood Detected and Quantified
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11.2 uM Adult (>18 years old) Not Specified Heart Transplant Not Available
Blood Detected and Quantified
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22.0 (4.3-37.0) uM Adult (>18 years old) Both Cobalamin deficiency Not Available
Blood Detected and Quantified
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0.480 +/- 0.062 uM Adult (>18 years old) Both Alzheimer's disease Not Available
Cerebrospinal Fluid (CSF) Detected and Quantified
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0.30 +/- 0.12 uM Elderly (>65 years old) Not Specified Alzheimer's disease Not Available
Urine Detected and Quantified
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325.00 (150.00-500.00) umol/mmol creatinine Adult (>18 years old) Both Transcobalamin deficiency Not Available
Urine Detected and Quantified
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16.0 (1.5-30.8) umol/mmol creatinine Adult (>18 years old) Both Cobalamin malabsorption Not Available
Urine Detected and Quantified
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275.0 (50.0-500.0) umol/mmol creatinine Adult (>18 years old) Both Cobalamin malabsorption Not Available
Urine Detected and Quantified
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7825.00 (150.00-15500.00) umol/mmol creatinine Adult (>18 years old) Both Malonyl CoA decarboxylase deficiency Not Available
Associated Disorders and Diseases
Disease References
Alzheimer's disease
  • Serot JM, Barbe F, Arning E, Bottiglieri T, Franck P, Montagne P, Nicolas JP: Homocysteine and methylmalonic acid concentrations in cerebrospinal fluid: relation with age and Alzheimer's disease. J Neurol Neurosurg Psychiatry. 2005 Nov;76(11):1585-7. Pubmed: 16227558 Link_out
  • Kristensen MO, Gulmann NC, Christensen JE, Ostergaard K, Rasmussen K: Serum cobalamin and methylmalonic acid in Alzheimer dementia. Acta Neurol Scand. 1993 Jun;87(6):475-81. Pubmed: 8356878 Link_out
    Vitamin B12 deficiency
    • Hoffmann GF, Meier-Augenstein W, Stockler S, Surtees R, Rating D, Nyhan WL: Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis. 1993;16(4):648-69. Pubmed: 8412012 Link_out
      Cobalamin malabsorption
        • http://www.metagene.de/program/d.prg?mp=COBALAMIN%20MALABSORPTION
        Malonyl-Coa decarboxylase deficiency
          • http://www.metagene.de/program/d.prg?mp=MALONYL-COA%20DECARBOXYLASE%20DEFICIENCY
          Transcobalamin II deficiency
            • http://www.metagene.de/program/d.prg?mp=TRANSCOBALAMIN%20II%20DEFICIENCY
            Associated OMIM IDs
            • 104300 Link_out (Alzheimer's disease)
            • 248360 Link_out (Malonyl-Coa decarboxylase deficiency)
            • 275350 Link_out (Transcobalamin II deficiency)
            DrugBank ID Not Available
            Phenol Explorer Compound ID Not Available
            Phenol Explorer Metabolite ID Not Available
            FoodDB ID FDB021905
            KNApSAcK ID Not Available
            Chemspider ID 473 Link_out
            KEGG Compound ID C02170 Link_out
            BioCyc ID Not Available
            BiGG ID Not Available
            Wikipedia Link Methylmalonic acid Link_out
            NuGOwiki Link HMDB00202 Link_out
            Metagene Link HMDB00202 Link_out
            METLIN ID 3712 Link_out
            PubChem Compound 487 Link_out
            PDB ID DXX Link_out
            ChEBI ID 30860 Link_out
            References
            Synthesis Reference Edamura, Koji; Arai, Takeshi. Malonic and methylmalonic acids from b-hydroxypropionic acids. Jpn. Kokai Tokkyo Koho (1979), 5 pp.
            Material Safety Data Sheet (MSDS) Not Available
            General References
            1. van Asselt DZ, Karlietis MH, Poels PJ, de Jong JG, Wevers RA, Hoefnagels WH: Cerebrospinal fluid methylmalonic acid concentrations in neurological patients with low and normal serum cobalamin concentrations. Acta Neurol Scand. 1998 Jun;97(6):413-6. Pubmed: 9669477 Link_out
            2. Magera MJ, Helgeson JK, Matern D, Rinaldo P: Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry. Clin Chem. 2000 Nov;46(11):1804-10. Pubmed: 11067816 Link_out
            3. Nakamura E, Rosenberg LE, Tanaka K: Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia. Clin Chim Acta. 1976 Apr 15;68(2):127-40. Pubmed: 1261058 Link_out
            4. Jakobs C, Sweetman L, Nyhan WL: Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. Clin Chim Acta. 1984 Jul 16;140(2):157-66. Pubmed: 6467607 Link_out
            5. Coude MM, Charpentier C, Bonnefont JP, Cheron G, Kamoun P: Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies. J Inherit Metab Dis. 1991;14(5):668-73. Pubmed: 1779612 Link_out
            6. 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 Link_out
            7. Aleszczyk J: [Connection between changing the vitamin and immune status and the character of the throat microflora in patients with chronic tonsillitis] Otolaryngol Pol. 2003;57(2):221-4. Pubmed: 12894427 Link_out
            8. Nagarajan S, Enns GM, Millan MT, Winter S, Sarwal MM: Management of methylmalonic acidaemia by combined liver-kidney transplantation. J Inherit Metab Dis. 2005;28(4):517-24. Pubmed: 15902554 Link_out
            9. Stabler SP, Marcell PD, Podell ER, Allen RH, Lindenbaum J: Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography-mass spectrometry. J Clin Invest. 1986 May;77(5):1606-12. Pubmed: 3700655 Link_out
            10. Jellum E, Stokke O, Eldjarn L: Combined use of gas chromatography, mass spectrometry, and computer in diagnosis and studies of metabolic disorders. Clin Chem. 1972 Aug;18(8):800-9. Pubmed: 4557757 Link_out
            11. Leupold D: [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)] Klin Wochenschr. 1977 Jan 15;55(2):57-63. Pubmed: 319293 Link_out
            12. Vrethem M, Mattsson E, Hebelka H, Leerbeck K, Osterberg A, Landtblom AM, Balla B, Nilsson H, Hultgren M, Brattstrom L, Kagedal B: Increased plasma homocysteine levels without signs of vitamin B12 deficiency in patients with multiple sclerosis assessed by blood and cerebrospinal fluid homocysteine and methylmalonic acid. Mult Scler. 2003 Jun;9(3):239-45. Pubmed: 12814169 Link_out
            13. Bennett MJ, Ragni MC, Hood I, Hale DE: Comparison of post-mortem urinary and vitreous humour organic acids. Ann Clin Biochem. 1992 Sep;29 ( Pt 5):541-5. Pubmed: 1444166 Link_out
            14. Haurani FI, Hall CA, Rubin R: Megaloblastic anemia as a result of an abnormal transcobalamin II (Cardeza). J Clin Invest. 1979 Nov;64(5):1253-9. Pubmed: 500809 Link_out
            15. Frenkel EP, Kitchens RL: Applicability of an enzymatic quantitation of methylmalonic, propionic, and acetic acids in normal and megaloblastic states. Blood. 1977 Jan;49(1):125-37. Pubmed: 830370 Link_out
            Enzymes
            Name: Aldehyde oxidase
            Reactions:
            • an aldehyde + H2O + O2 = a carboxylic acid + H2O2 [RN:R00635]
            Gene Name: AOX1
            Uniprot ID: Q06278 Link_out
            Protein Sequence: FASTA
            Gene Sequence: FASTA
            Name: 4-trimethylaminobutyraldehyde dehydrogenase
            Reactions:
            • 4-trimethylammoniobutanal + NAD+ + H2O = 4-trimethylammoniobutanoate + NADH + 2 H+ [RN:R03283]
            Gene Name: ALDH9A1
            Uniprot ID: P49189 Link_out
            Protein Sequence: FASTA
            Gene Sequence: FASTA
            Name: Alpha-aminoadipic semialdehyde dehydrogenase
            Reactions:
            • L-2-aminoadipate 6-semialdehyde + NAD(P)+ + H2O = L-2-aminoadipate + NAD(P)H + H+ [RN:R03102 R03103]
            Gene Name: ALDH7A1
            Uniprot ID: P49419 Link_out
            Protein Sequence: FASTA
            Gene Sequence: FASTA
            Name: Aldehyde dehydrogenase family 1 member A3
            Reactions:
            • an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+ [RN:R00538 R00634]
            Gene Name: ALDH1A3
            Uniprot ID: P47895 Link_out
            Protein Sequence: FASTA
            Gene Sequence: FASTA
            Name: Aldehyde dehydrogenase, mitochondrial
            Reactions:
            • an aldehyde + NAD+ + H2O = an acid + NADH + H+ [RN:R00538]
            Gene Name: ALDH2
            Uniprot ID: P05091 Link_out
            Protein Sequence: FASTA
            Gene Sequence: FASTA
            Name: Fatty aldehyde dehydrogenase
            Reactions:
            • an aldehyde + NAD+ + H2O = an acid + NADH + H+ [RN:R00538]
            Gene Name: ALDH3A2
            Uniprot ID: P51648 Link_out
            Protein Sequence: FASTA
            Gene Sequence: FASTA
            Name: Aldehyde dehydrogenase X, mitochondrial
            Reactions:
            • an aldehyde + NAD+ + H2O = an acid + NADH + H+ [RN:R00538]
            Gene Name: ALDH1B1
            Uniprot ID: P30837 Link_out
            Protein Sequence: FASTA
            Gene Sequence: FASTA