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Showing metabocard for 3-Methylglutaconic acid (HMDB0000522)

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Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2023-02-21 17:14:54 UTC
HMDB IDHMDB0000522
Secondary Accession Numbers
  • HMDB00522
Metabolite Identification
Common Name3-Methylglutaconic acid
Description3-Methylglutaconic acid is an intermediate (as the CoA thioester) in the leucine degradative pathway as well as the mevalonate shunt, a pathway that links isoprenoid metabolism with mitochondrial acetyl-CoA metabolism (PMID: 7603789 ). 3-methylglutaconyl-CoA hydratase is involved in the metabolism process of 3-methylglutaconic acid. When present in sufficiently high levels, 3-methylglutaconic 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. Chronically high levels of 3-methylglutaconic acid are associated with at least five inborn errors of metabolism including 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, 3-methylglutaconic aciduria type I, 3-methylglutaconic aciduria type III, 3-methylglutaconic aciduria type IV, and guanidinoacetate methyltransferase deficiency (GAMT deficiency). 3-Methylglutaconic 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, liver, and kidney abnormalities, 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
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MOL3D MOLSDF3D SDFPDB3D PDBSMILESInChI

MOL for HMDB0000522 (3-Methylglutaconic acid)

3-Methylglutaconic acid.mol
  Mrv1652302121822452D          

 10  9  0  0  0  0            999 V2000
    1.4289   -0.2062    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.7145   -0.6188    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000   -0.2063    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7145   -0.6188    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289   -0.2063    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.4289    0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    2.1434   -0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289    0.6187    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -2.1434   -0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000    0.6187    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0  0  0  0
  2  3  2  0  0  0  0
  3  4  1  0  0  0  0
  4  5  1  0  0  0  0
  1  6  2  0  0  0  0
  1  7  1  0  0  0  0
  5  8  2  0  0  0  0
  5  9  1  0  0  0  0
  3 10  1  0  0  0  0
M  END
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3D MOL for HMDB0000522 (3-Methylglutaconic acid)

HMDB0000522
     RDKit          3D
3-Methylglutaconic acid
 18 17  0  0  0  0  0  0  0  0999 V2000
   -0.7065   -1.7463    0.3997 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.0652   -0.3827    0.2504 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.9037    0.6154    0.1088 C   0  0  0  0  0  0  0  0  0  0  0  0
   -2.3418    0.4232    0.0966 C   0  0  0  0  0  0  0  0  0  0  0  0
   -2.9349   -0.6731    0.2149 O   0  0  0  0  0  0  0  0  0  0  0  0
   -3.2046    1.5225   -0.0578 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.3977   -0.3381    0.2812 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.0706    0.9376    0.1436 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.5860    2.0619   -0.0043 O   0  0  0  0  0  0  0  0  0  0  0  0
    3.4871    0.9095    0.1820 O   0  0  0  0  0  0  0  0  0  0  0  0
   -1.2808   -1.8404    1.3186 H   0  0  0  0  0  0  0  0  0  0  0  0
   -1.2292   -2.0328   -0.5339 H   0  0  0  0  0  0  0  0  0  0  0  0
    0.1009   -2.5374    0.4900 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.5472    1.6381   -0.0063 H   0  0  0  0  0  0  0  0  0  0  0  0
   -2.9917    2.3065   -0.6483 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.6740   -0.7241    1.3251 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.8402   -1.1010   -0.4264 H   0  0  0  0  0  0  0  0  0  0  0  0
    4.0488    0.9611   -0.6385 H   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0
  2  3  2  0
  3  4  1  0
  4  5  2  0
  4  6  1  0
  2  7  1  0
  7  8  1  0
  8  9  2  0
  8 10  1  0
  1 11  1  0
  1 12  1  0
  1 13  1  0
  3 14  1  0
  6 15  1  0
  7 16  1  0
  7 17  1  0
 10 18  1  0
M  END
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3D SDF for HMDB0000522 (3-Methylglutaconic acid)

3-Methylglutaconic acid.mol
  Mrv1652302121822452D          

 10  9  0  0  0  0            999 V2000
    1.4289   -0.2062    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.7145   -0.6188    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000   -0.2063    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7145   -0.6188    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289   -0.2063    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.4289    0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    2.1434   -0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289    0.6187    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -2.1434   -0.6188    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000    0.6187    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0  0  0  0
  2  3  2  0  0  0  0
  3  4  1  0  0  0  0
  4  5  1  0  0  0  0
  1  6  2  0  0  0  0
  1  7  1  0  0  0  0
  5  8  2  0  0  0  0
  5  9  1  0  0  0  0
  3 10  1  0  0  0  0
M  END
> <DATABASE_ID>
HMDB0000522

> <DATABASE_NAME>
hmdb

> <SMILES>
C\C(CC(O)=O)=C/C(O)=O

> <INCHI_IDENTIFIER>
InChI=1S/C6H8O4/c1-4(2-5(7)8)3-6(9)10/h2H,3H2,1H3,(H,7,8)(H,9,10)/b4-2+

> <INCHI_KEY>
WKRBKYFIJPGYQC-DUXPYHPUSA-N

> <FORMULA>
C6H8O4

> <MOLECULAR_WEIGHT>
144.1253

> <EXACT_MASS>
144.042258744

> <JCHEM_ACCEPTOR_COUNT>
4

> <JCHEM_ATOM_COUNT>
18

> <JCHEM_AVERAGE_POLARIZABILITY>
13.266891782956623

> <JCHEM_BIOAVAILABILITY>
1

> <JCHEM_DONOR_COUNT>
2

> <JCHEM_FORMAL_CHARGE>
0

> <JCHEM_GHOSE_FILTER>
0

> <JCHEM_IUPAC>
(2E)-3-methylpent-2-enedioic acid

> <ALOGPS_LOGP>
0.37

> <JCHEM_LOGP>
0.287270459

> <ALOGPS_LOGS>
-1.22

> <JCHEM_MDDR_LIKE_RULE>
0

> <JCHEM_NUMBER_OF_RINGS>
0

> <JCHEM_PHYSIOLOGICAL_CHARGE>
-2

> <JCHEM_PKA>
4.659788519242309

> <JCHEM_PKA_STRONGEST_ACIDIC>
3.854151000940069

> <JCHEM_POLAR_SURFACE_AREA>
74.6

> <JCHEM_REFRACTIVITY>
33.5133

> <JCHEM_ROTATABLE_BOND_COUNT>
3

> <JCHEM_RULE_OF_FIVE>
1

> <ALOGPS_SOLUBILITY>
8.69e+00 g/l

> <JCHEM_TRADITIONAL_IUPAC>
β-methylglutaconic acid

> <JCHEM_VEBER_RULE>
0

$$$$
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3D-SDF for HMDB0000522 (3-Methylglutaconic acid)

HMDB0000522
     RDKit          3D
3-Methylglutaconic acid
 18 17  0  0  0  0  0  0  0  0999 V2000
   -0.7065   -1.7463    0.3997 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.0652   -0.3827    0.2504 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.9037    0.6154    0.1088 C   0  0  0  0  0  0  0  0  0  0  0  0
   -2.3418    0.4232    0.0966 C   0  0  0  0  0  0  0  0  0  0  0  0
   -2.9349   -0.6731    0.2149 O   0  0  0  0  0  0  0  0  0  0  0  0
   -3.2046    1.5225   -0.0578 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.3977   -0.3381    0.2812 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.0706    0.9376    0.1436 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.5860    2.0619   -0.0043 O   0  0  0  0  0  0  0  0  0  0  0  0
    3.4871    0.9095    0.1820 O   0  0  0  0  0  0  0  0  0  0  0  0
   -1.2808   -1.8404    1.3186 H   0  0  0  0  0  0  0  0  0  0  0  0
   -1.2292   -2.0328   -0.5339 H   0  0  0  0  0  0  0  0  0  0  0  0
    0.1009   -2.5374    0.4900 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.5472    1.6381   -0.0063 H   0  0  0  0  0  0  0  0  0  0  0  0
   -2.9917    2.3065   -0.6483 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.6740   -0.7241    1.3251 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.8402   -1.1010   -0.4264 H   0  0  0  0  0  0  0  0  0  0  0  0
    4.0488    0.9611   -0.6385 H   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0
  2  3  2  0
  3  4  1  0
  4  5  2  0
  4  6  1  0
  2  7  1  0
  7  8  1  0
  8  9  2  0
  8 10  1  0
  1 11  1  0
  1 12  1  0
  1 13  1  0
  3 14  1  0
  6 15  1  0
  7 16  1  0
  7 17  1  0
 10 18  1  0
M  END
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PDB for HMDB0000522 (3-Methylglutaconic acid)

HEADER    PROTEIN                                 12-FEB-18   NONE
TITLE     NULL                                                        
COMPND    MOLECULE: 3-Methylglutaconic acid.mol                       
SOURCE    NULL                                                        
KEYWDS    NULL                                                        
EXPDTA    NULL                                                        
AUTHOR    Marvin                                                      
REVDAT   1   12-FEB-18         0                                  
HETATM    1  C   UNK     0       2.667  -0.385   0.000  0.00  0.00           C+0
HETATM    2  C   UNK     0       1.334  -1.155   0.000  0.00  0.00           C+0
HETATM    3  C   UNK     0       0.000  -0.385   0.000  0.00  0.00           C+0
HETATM    4  C   UNK     0      -1.334  -1.155   0.000  0.00  0.00           C+0
HETATM    5  C   UNK     0      -2.667  -0.385   0.000  0.00  0.00           C+0
HETATM    6  O   UNK     0       2.667   1.155   0.000  0.00  0.00           O+0
HETATM    7  O   UNK     0       4.001  -1.155   0.000  0.00  0.00           O+0
HETATM    8  O   UNK     0      -2.667   1.155   0.000  0.00  0.00           O+0
HETATM    9  O   UNK     0      -4.001  -1.155   0.000  0.00  0.00           O+0
HETATM   10  C   UNK     0       0.000   1.155   0.000  0.00  0.00           C+0
CONECT    1    2    6    7                                                  
CONECT    2    1    3                                                       
CONECT    3    2    4   10                                                  
CONECT    4    3    5                                                       
CONECT    5    4    8    9                                                  
CONECT    6    1                                                            
CONECT    7    1                                                            
CONECT    8    5                                                            
CONECT    9    5                                                            
CONECT   10    3                                                            
MASTER        0    0    0    0    0    0    0    0   10    0   18    0
END
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3D PDB for HMDB0000522 (3-Methylglutaconic acid)

COMPND    HMDB0000522
HETATM    1  C1  UNL     1      -0.707  -1.746   0.400  1.00  0.00           C  
HETATM    2  C2  UNL     1      -0.065  -0.383   0.250  1.00  0.00           C  
HETATM    3  C3  UNL     1      -0.904   0.615   0.109  1.00  0.00           C  
HETATM    4  C4  UNL     1      -2.342   0.423   0.097  1.00  0.00           C  
HETATM    5  O1  UNL     1      -2.935  -0.673   0.215  1.00  0.00           O  
HETATM    6  O2  UNL     1      -3.205   1.522  -0.058  1.00  0.00           O  
HETATM    7  C5  UNL     1       1.398  -0.338   0.281  1.00  0.00           C  
HETATM    8  C6  UNL     1       2.071   0.938   0.144  1.00  0.00           C  
HETATM    9  O3  UNL     1       1.586   2.062  -0.004  1.00  0.00           O  
HETATM   10  O4  UNL     1       3.487   0.910   0.182  1.00  0.00           O  
HETATM   11  H1  UNL     1      -1.281  -1.840   1.319  1.00  0.00           H  
HETATM   12  H2  UNL     1      -1.229  -2.033  -0.534  1.00  0.00           H  
HETATM   13  H3  UNL     1       0.101  -2.537   0.490  1.00  0.00           H  
HETATM   14  H4  UNL     1      -0.547   1.638  -0.006  1.00  0.00           H  
HETATM   15  H5  UNL     1      -2.992   2.306  -0.648  1.00  0.00           H  
HETATM   16  H6  UNL     1       1.674  -0.724   1.325  1.00  0.00           H  
HETATM   17  H7  UNL     1       1.840  -1.101  -0.426  1.00  0.00           H  
HETATM   18  H8  UNL     1       4.049   0.961  -0.639  1.00  0.00           H  
CONECT    1    2   11   12   13
CONECT    2    3    3    7
CONECT    3    4   14
CONECT    4    5    5    6
CONECT    6   15
CONECT    7    8   16   17
CONECT    8    9    9   10
CONECT   10   18
END
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SMILES for HMDB0000522 (3-Methylglutaconic acid)

C\C(CC(O)=O)=C/C(O)=O
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INCHI for HMDB0000522 (3-Methylglutaconic acid)

InChI=1S/C6H8O4/c1-4(2-5(7)8)3-6(9)10/h2H,3H2,1H3,(H,7,8)(H,9,10)/b4-2+
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View in JSmolView Stereo Labels
Synonyms
ValueSource
3-MethylglutaconateGenerator
b-MethylglutaconateHMDB
b-Methylglutaconic acidHMDB
beta-MethylglutaconateHMDB
beta-Methylglutaconic acidHMDB
Β-methylglutaconic acidHMDB
3-Methyl-2-pentenedioic acidHMDB
3E-MethylglutaconateHMDB
3-Methylglutaconic acidHMDB, MeSH
Chemical FormulaC6H8O4
Average Molecular Weight144.1253
Monoisotopic Molecular Weight144.042258744
IUPAC Name(2E)-3-methylpent-2-enedioic acid
Traditional Nameβ-methylglutaconic acid
CAS Registry Number5746-90-7
SMILES
C\C(CC(O)=O)=C/C(O)=O
InChI Identifier
InChI=1S/C6H8O4/c1-4(2-5(7)8)3-6(9)10/h2H,3H2,1H3,(H,7,8)(H,9,10)/b4-2+
InChI KeyWKRBKYFIJPGYQC-DUXPYHPUSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as methyl-branched fatty acids. These are fatty acids with an acyl chain that has a methyl branch. Usually, they are saturated and contain only one or more methyl group. However, branches other than methyl may be present.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassFatty Acyls
Sub ClassFatty acids and conjugates
Direct ParentMethyl-branched fatty acids
Alternative Parents
Substituents
  • Methyl-branched fatty acid
  • Unsaturated fatty acid
  • 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
Health effect
Disposition
Biological locationRoute of exposureSource
Process
Naturally occurring process
Role
Biological roleIndustrial applicationIndirect biological role
Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Experimental Chromatographic PropertiesNot Available
Predicted Molecular Properties
Predicted Chromatographic Properties
Spectra
Biological Properties
Cellular Locations
  • Cytoplasm
  • Extracellular
  • Membrane
Biospecimen Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Urine
Tissue Locations
  • Placenta
Pathways
Normal Concentrations
Abnormal Concentrations
Associated Disorders and Diseases
Disease References
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  1. Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. [PubMed:15505778 ]
  2. Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33. [PubMed:23705938 ]
  3. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
3-Methylglutaconic aciduria type I
  1. Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr;19(2):271-8. [PubMed:16541463 ]
  2. Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA: 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a. [PubMed:20855850 ]
  3. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Eosinophilic esophagitis
  1. Slae, M., Huynh, H., Wishart, D.S. (2014). Analysis of 30 normal pediatric urine samples via NMR spectroscopy (unpublished work). NA.
3-methylglutaconic aciduria type II, X-linked
  1. Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG: Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr. 1999 Sep;135(3):311-5. [PubMed:10484795 ]
3-Methylglutaconic Aciduria type VI
  1. Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E: Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. [PubMed:16527507 ]
3-Methylglutaconic Aciduria type IV
  1. Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E: Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. [PubMed:19015156 ]
3-Methylglutaconic Aciduria type V
  1. Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, Suomalainen A, Tyni T: New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012 Oct;72(4):432-7. doi: 10.1038/pr.2012.92. Epub 2012 Jul 13. [PubMed:22797137 ]
3-Methylglutaconic aciduria type VII
  1. Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA: CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. [PubMed:25597510 ]
Sengers syndrome
  1. Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C: Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. J Inherit Metab Dis. 2006 Aug;29(4):546-50. doi: 10.1007/s10545-006-0279-y. Epub 2006 May 30. [PubMed:16736096 ]
Associated OMIM IDs
  • 246450 (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
  • 250950 (3-Methylglutaconic aciduria type I)
  • 610247 (Eosinophilic esophagitis)
  • 302060 (3-methylglutaconic aciduria type II, X-linked)
  • 614739 (3-Methylglutaconic Aciduria type VI)
  • 250951 (3-Methylglutaconic Aciduria type IV)
  • 610198 (3-Methylglutaconic Aciduria type V)
  • 616271 (3-Methylglutaconic aciduria type VII)
  • 212350 (Sengers syndrome)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022090
KNApSAcK IDC00052150
Chemspider ID1267861
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia Link3-Methylglutaconic acid
METLIN ID5507
PubChem Compound1551553
PDB IDNot Available
ChEBI ID37245
Food Biomarker OntologyNot Available
VMH IDNot Available
MarkerDB IDMDB00000182
Good Scents IDNot Available
References
Synthesis ReferenceAoyama, Takayuki; Kato, Kazuo; Shimada, Nobuyoshi; Fujii, Akio; Takita, Tomohisa. Production of 3-methylglutaconic acid. Jpn. Kokai Tokkyo Koho (1986), 3 pp.
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Mitchell GA, Jakobs C, Gibson KM, Robert MF, Burlina A, Dionisi-Vici C, Dallaire L: Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency. Prenat Diagn. 1995 Aug;15(8):725-9. [PubMed:7479590 ]
  2. Holme E, Greter J, Jacobson CE, Larsson NG, Lindstedt S, Nilsson KO, Oldfors A, Tulinius M: Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatr Res. 1992 Dec;32(6):731-5. [PubMed:1287564 ]
  3. Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N: 3-Methylglutaconic aciduria in "optic atrophy plus". Ann Neurol. 1993 Jan;33(1):103-4. [PubMed:8494328 ]
  4. Sheffer RN, Zlotogora J, Elpeleg ON, Raz J, Ben-Ezra D: Behr's syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol. 1992 Oct 15;114(4):494-7. [PubMed:1384336 ]
  5. Kelley RI: Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry. Clin Chim Acta. 1993 Nov 15;220(2):157-64. [PubMed:8111960 ]
  6. Kelley RI, Kratz L: 3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. Pediatr Res. 1995 May;37(5):671-4. [PubMed:7603789 ]
  7. 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 ]