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Showing metabocard for 2-Methyl-3-hydroxybutyric acid (HMDB0000354)

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IdentificationTaxonomyOntologyPhysical propertiesSpectraBiological propertiesConcentrationsLinksReferencesenzymes (2) Show 2 proteinsXML
enzymes (2) Show 2 proteins
Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2021-09-14 15:17:56 UTC
HMDB IDHMDB0000354
Secondary Accession Numbers
  • HMDB0000420
  • HMDB0000605
  • HMDB0002187
  • HMDB00354
  • HMDB00420
  • HMDB00605
  • HMDB02187
Metabolite Identification
Common Name2-Methyl-3-hydroxybutyric acid
Description3-Hydroxy-2-methyl-butanoic acid (HMBA) is a normal urinary metabolite involved in the isoleucine catabolism, as well as presumably beta-oxidation of fatty acids and ketogenesis, excreted in abnormally high amounts in beta-ketothiolase deficiency, which is a genetic disorder. Differences in the enantiomeric ratio of HMBA may originate from the enantioselectivity of different enzyme systems (PMID 10755375 ).
Structure
Data?1582752125
MOL3D MOLSDF3D SDFPDB3D PDBSMILESInChI

MOL for HMDB0000354 (2-Methyl-3-hydroxybutyric acid)

2-Methyl-3-hydroxybutyric acid.mol
  Mrv0541 02231218282D          

  8  7  0  0  0  0            999 V2000
    0.7137   -0.2069    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000    0.2069    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7152   -0.2043    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289    0.2095    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.7122   -1.0319    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.4289    0.2043    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7167   -1.0293    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.0015    1.0319    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0  0  0  0
  2  3  1  0  0  0  0
  3  4  1  0  0  0  0
  1  5  2  0  0  0  0
  1  6  1  0  0  0  0
  3  7  1  0  0  0  0
  2  8  1  0  0  0  0
M  END
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3D MOL for HMDB0000354 (2-Methyl-3-hydroxybutyric acid)

HMDB0000354
     RDKit          3D
2-Methyl-3-hydroxybutyric acid
 18 17  0  0  0  0  0  0  0  0999 V2000
   -1.9856    0.1924   -0.0359 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.6319    0.6030    0.5057 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.5026    0.0278    1.7827 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.5069    0.0555   -0.3278 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.4681   -1.4450   -0.3549 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.7687    0.5352    0.2859 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.5833   -0.3241    0.6908 O   0  0  0  0  0  0  0  0  0  0  0  0
    2.0563    1.8822    0.4165 O   0  0  0  0  0  0  0  0  0  0  0  0
   -2.2835    0.7816   -0.9278 H   0  0  0  0  0  0  0  0  0  0  0  0
   -2.0298   -0.8638   -0.3005 H   0  0  0  0  0  0  0  0  0  0  0  0
   -2.7096    0.3578    0.8155 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.5854    1.6832    0.6421 H   0  0  0  0  0  0  0  0  0  0  0  0
   -1.0116   -0.8400    1.7576 H   0  0  0  0  0  0  0  0  0  0  0  0
    0.4298    0.4215   -1.3866 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.3553   -1.8320   -0.9483 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.4593   -1.8080   -0.7565 H   0  0  0  0  0  0  0  0  0  0  0  0
    0.4651   -1.7907    0.7114 H   0  0  0  0  0  0  0  0  0  0  0  0
    2.3577    2.3635   -0.4347 H   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0
  2  3  1  0
  2  4  1  0
  4  5  1  0
  4  6  1  0
  6  7  2  0
  6  8  1  0
  1  9  1  0
  1 10  1  0
  1 11  1  0
  2 12  1  0
  3 13  1  0
  4 14  1  0
  5 15  1  0
  5 16  1  0
  5 17  1  0
  8 18  1  0
M  END
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3D SDF for HMDB0000354 (2-Methyl-3-hydroxybutyric acid)

2-Methyl-3-hydroxybutyric acid.mol
  Mrv0541 02231218282D          

  8  7  0  0  0  0            999 V2000
    0.7137   -0.2069    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.0000    0.2069    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7152   -0.2043    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
   -1.4289    0.2095    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.7122   -1.0319    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    1.4289    0.2043    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
   -0.7167   -1.0293    0.0000 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.0015    1.0319    0.0000 C   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0  0  0  0
  2  3  1  0  0  0  0
  3  4  1  0  0  0  0
  1  5  2  0  0  0  0
  1  6  1  0  0  0  0
  3  7  1  0  0  0  0
  2  8  1  0  0  0  0
M  END
> <DATABASE_ID>
HMDB0000354

> <DATABASE_NAME>
hmdb

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

> <INCHI_IDENTIFIER>
InChI=1S/C5H10O3/c1-3(4(2)6)5(7)8/h3-4,6H,1-2H3,(H,7,8)

> <INCHI_KEY>
VEXDRERIMPLZLU-UHFFFAOYSA-N

> <FORMULA>
C5H10O3

> <MOLECULAR_WEIGHT>
118.1311

> <EXACT_MASS>
118.062994186

> <JCHEM_ACCEPTOR_COUNT>
3

> <JCHEM_AVERAGE_POLARIZABILITY>
11.829094147373619

> <JCHEM_BIOAVAILABILITY>
1

> <JCHEM_DONOR_COUNT>
2

> <JCHEM_FORMAL_CHARGE>
0

> <JCHEM_GHOSE_FILTER>
0

> <JCHEM_IUPAC>
3-hydroxy-2-methylbutanoic acid

> <ALOGPS_LOGP>
-0.13

> <JCHEM_LOGP>
0.1559802790000001

> <ALOGPS_LOGS>
0.45

> <JCHEM_MDDR_LIKE_RULE>
0

> <JCHEM_NUMBER_OF_RINGS>
0

> <JCHEM_PHYSIOLOGICAL_CHARGE>
-1

> <JCHEM_PKA>
15.303379950745505

> <JCHEM_PKA_STRONGEST_ACIDIC>
4.513689206767185

> <JCHEM_PKA_STRONGEST_BASIC>
-2.7866129389831196

> <JCHEM_POLAR_SURFACE_AREA>
57.53

> <JCHEM_REFRACTIVITY>
28.038600000000002

> <JCHEM_ROTATABLE_BOND_COUNT>
2

> <JCHEM_RULE_OF_FIVE>
1

> <ALOGPS_SOLUBILITY>
3.36e+02 g/l

> <JCHEM_TRADITIONAL_IUPAC>
nilic acid

> <JCHEM_VEBER_RULE>
0

$$$$
Download

3D-SDF for HMDB0000354 (2-Methyl-3-hydroxybutyric acid)

HMDB0000354
     RDKit          3D
2-Methyl-3-hydroxybutyric acid
 18 17  0  0  0  0  0  0  0  0999 V2000
   -1.9856    0.1924   -0.0359 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.6319    0.6030    0.5057 C   0  0  0  0  0  0  0  0  0  0  0  0
   -0.5026    0.0278    1.7827 O   0  0  0  0  0  0  0  0  0  0  0  0
    0.5069    0.0555   -0.3278 C   0  0  0  0  0  0  0  0  0  0  0  0
    0.4681   -1.4450   -0.3549 C   0  0  0  0  0  0  0  0  0  0  0  0
    1.7687    0.5352    0.2859 C   0  0  0  0  0  0  0  0  0  0  0  0
    2.5833   -0.3241    0.6908 O   0  0  0  0  0  0  0  0  0  0  0  0
    2.0563    1.8822    0.4165 O   0  0  0  0  0  0  0  0  0  0  0  0
   -2.2835    0.7816   -0.9278 H   0  0  0  0  0  0  0  0  0  0  0  0
   -2.0298   -0.8638   -0.3005 H   0  0  0  0  0  0  0  0  0  0  0  0
   -2.7096    0.3578    0.8155 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.5854    1.6832    0.6421 H   0  0  0  0  0  0  0  0  0  0  0  0
   -1.0116   -0.8400    1.7576 H   0  0  0  0  0  0  0  0  0  0  0  0
    0.4298    0.4215   -1.3866 H   0  0  0  0  0  0  0  0  0  0  0  0
   -0.3553   -1.8320   -0.9483 H   0  0  0  0  0  0  0  0  0  0  0  0
    1.4593   -1.8080   -0.7565 H   0  0  0  0  0  0  0  0  0  0  0  0
    0.4651   -1.7907    0.7114 H   0  0  0  0  0  0  0  0  0  0  0  0
    2.3577    2.3635   -0.4347 H   0  0  0  0  0  0  0  0  0  0  0  0
  1  2  1  0
  2  3  1  0
  2  4  1  0
  4  5  1  0
  4  6  1  0
  6  7  2  0
  6  8  1  0
  1  9  1  0
  1 10  1  0
  1 11  1  0
  2 12  1  0
  3 13  1  0
  4 14  1  0
  5 15  1  0
  5 16  1  0
  5 17  1  0
  8 18  1  0
M  END
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PDB for HMDB0000354 (2-Methyl-3-hydroxybutyric acid)

HEADER    PROTEIN                                 23-FEB-12   NONE
TITLE     NULL                                                        
COMPND    MOLECULE: 2-Methyl-3-hydroxybutyric acid.mol                
SOURCE    NULL                                                        
KEYWDS    NULL                                                        
EXPDTA    NULL                                                        
AUTHOR    Marvin                                                      
REVDAT   1   23-FEB-12         0                                  
HETATM    1  C   UNK     0       1.332  -0.386   0.000  0.00  0.00           C+0
HETATM    2  C   UNK     0       0.000   0.386   0.000  0.00  0.00           C+0
HETATM    3  C   UNK     0      -1.335  -0.381   0.000  0.00  0.00           C+0
HETATM    4  C   UNK     0      -2.667   0.391   0.000  0.00  0.00           C+0
HETATM    5  O   UNK     0       1.329  -1.926   0.000  0.00  0.00           O+0
HETATM    6  O   UNK     0       2.667   0.381   0.000  0.00  0.00           O+0
HETATM    7  O   UNK     0      -1.338  -1.921   0.000  0.00  0.00           O+0
HETATM    8  C   UNK     0       0.003   1.926   0.000  0.00  0.00           C+0
CONECT    1    2    5    6                                                  
CONECT    2    1    3    8                                                  
CONECT    3    2    4    7                                                  
CONECT    4    3                                                            
CONECT    5    1                                                            
CONECT    6    1                                                            
CONECT    7    3                                                            
CONECT    8    2                                                            
MASTER        0    0    0    0    0    0    0    0    8    0   14    0
END
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3D PDB for HMDB0000354 (2-Methyl-3-hydroxybutyric acid)

COMPND    HMDB0000354
HETATM    1  C1  UNL     1      -1.986   0.192  -0.036  1.00  0.00           C  
HETATM    2  C2  UNL     1      -0.632   0.603   0.506  1.00  0.00           C  
HETATM    3  O1  UNL     1      -0.503   0.028   1.783  1.00  0.00           O  
HETATM    4  C3  UNL     1       0.507   0.056  -0.328  1.00  0.00           C  
HETATM    5  C4  UNL     1       0.468  -1.445  -0.355  1.00  0.00           C  
HETATM    6  C5  UNL     1       1.769   0.535   0.286  1.00  0.00           C  
HETATM    7  O2  UNL     1       2.583  -0.324   0.691  1.00  0.00           O  
HETATM    8  O3  UNL     1       2.056   1.882   0.416  1.00  0.00           O  
HETATM    9  H1  UNL     1      -2.284   0.782  -0.928  1.00  0.00           H  
HETATM   10  H2  UNL     1      -2.030  -0.864  -0.300  1.00  0.00           H  
HETATM   11  H3  UNL     1      -2.710   0.358   0.815  1.00  0.00           H  
HETATM   12  H4  UNL     1      -0.585   1.683   0.642  1.00  0.00           H  
HETATM   13  H5  UNL     1      -1.012  -0.840   1.758  1.00  0.00           H  
HETATM   14  H6  UNL     1       0.430   0.422  -1.387  1.00  0.00           H  
HETATM   15  H7  UNL     1      -0.355  -1.832  -0.948  1.00  0.00           H  
HETATM   16  H8  UNL     1       1.459  -1.808  -0.757  1.00  0.00           H  
HETATM   17  H9  UNL     1       0.465  -1.791   0.711  1.00  0.00           H  
HETATM   18  H10 UNL     1       2.358   2.363  -0.435  1.00  0.00           H  
CONECT    1    2    9   10   11
CONECT    2    3    4   12
CONECT    3   13
CONECT    4    5    6   14
CONECT    5   15   16   17
CONECT    6    7    7    8
CONECT    8   18
END
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SMILES for HMDB0000354 (2-Methyl-3-hydroxybutyric acid)

CC(O)C(C)C(O)=O
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INCHI for HMDB0000354 (2-Methyl-3-hydroxybutyric acid)

InChI=1S/C5H10O3/c1-3(4(2)6)5(7)8/h3-4,6H,1-2H3,(H,7,8)
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View in JSmolView Stereo Labels
Synonyms
ValueSource
2-Methyl-3-hydroxybutanoic acidChEBI
3-Hydroxy-2-methylbutyric acidChEBI
2-Methyl-3-hydroxybutanoateGenerator
3-Hydroxy-2-methylbutyrateGenerator
2-Methyl-3-hydroxybutyrateGenerator
3-Hydroxy-2-methyl-butyrateHMDB
3-Hydroxy-2-methyl-butyric acidHMDB
3-Hydroxy-2-methylbutanoateHMDB
3-Hydroxy-2-methylbutanoic acidHMDB
a-Methyl-b-hydroxybutyrateHMDB
a-Methyl-b-hydroxybutyric acidHMDB
alpha-Methyl-beta-hydroxybutyrateHMDB
alpha-Methyl-beta-hydroxybutyric acidHMDB
NilateHMDB
Nilic acidHMDB
2-Methyl-3-hydroxybutyric acid, (R-(r*,s*))-isomerHMDB
Chemical FormulaC5H10O3
Average Molecular Weight118.1311
Monoisotopic Molecular Weight118.062994186
IUPAC Name3-hydroxy-2-methylbutanoic acid
Traditional Namenilic acid
CAS Registry Number473-86-9
SMILES
CC(O)C(C)C(O)=O
InChI Identifier
InChI=1S/C5H10O3/c1-3(4(2)6)5(7)8/h3-4,6H,1-2H3,(H,7,8)
InChI KeyVEXDRERIMPLZLU-UHFFFAOYSA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as hydroxy fatty acids. These are fatty acids in which the chain bears a hydroxyl group.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassFatty Acyls
Sub ClassFatty acids and conjugates
Direct ParentHydroxy fatty acids
Alternative Parents
Substituents
  • Beta-hydroxy acid
  • Branched fatty acid
  • Hydroxy fatty acid
  • Short-chain hydroxy acid
  • Methyl-branched fatty acid
  • Hydroxy acid
  • Secondary alcohol
  • Monocarboxylic acid or derivatives
  • Carboxylic acid
  • Carboxylic acid derivative
  • Organooxygen compound
  • Alcohol
  • Carbonyl group
  • Hydrocarbon derivative
  • Organic oxide
  • Organic oxygen compound
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External Descriptors
Ontology
Disposition

Biological location

Source

Route of exposure

Physical Properties
StateSolid
Experimental Molecular Properties
PropertyValueReference
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Experimental Spectral PropertiesNot Available
Predicted Molecular Properties
PropertyValueSource
Water Solubility336 g/LALOGPS
logP10(-0.13) g/LALOGPS
logP10(0.16) g/LChemAxon
logS10(0.45) g/LALOGPS
pKa (Strongest Acidic)4.51ChemAxon
pKa (Strongest Basic)-2.8ChemAxon
Physiological Charge-1ChemAxon
Hydrogen Acceptor Count3ChemAxon
Hydrogen Donor Count2ChemAxon
Polar Surface Area57.53 ŲChemAxon
Rotatable Bond Count2ChemAxon
Refractivity28.04 m³·mol⁻¹ChemAxon
Polarizability11.83 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]+125.82631661259
DarkChem[M-H]-120.25331661259
AllCCS[M+H]+129.86532859911
AllCCS[M-H]-125.83332859911

Predicted Kovats Retention Indices

Derivatized

Derivative Name / StructureSMILESKovats RI ValueColumn TypeReference
2-Methyl-3-hydroxybutyric acid,1TMS,#1CC(O[Si](C)(C)C)C(C)C(=O)O1145.7Semi standard non polarhttps://arxiv.org/abs/1905.12712
2-Methyl-3-hydroxybutyric acid,1TMS,#2CC(O)C(C)C(=O)O[Si](C)(C)C1056.0Semi standard non polarhttps://arxiv.org/abs/1905.12712
2-Methyl-3-hydroxybutyric acid,2TMS,#1CC(O[Si](C)(C)C)C(C)C(=O)O[Si](C)(C)C1207.6Semi standard non polarhttps://arxiv.org/abs/1905.12712
2-Methyl-3-hydroxybutyric acid,1TBDMS,#1CC(O[Si](C)(C)C(C)(C)C)C(C)C(=O)O1387.0Semi standard non polarhttps://arxiv.org/abs/1905.12712
2-Methyl-3-hydroxybutyric acid,1TBDMS,#2CC(O)C(C)C(=O)O[Si](C)(C)C(C)(C)C1286.2Semi standard non polarhttps://arxiv.org/abs/1905.12712
2-Methyl-3-hydroxybutyric acid,2TBDMS,#1CC(O[Si](C)(C)C(C)(C)C)C(C)C(=O)O[Si](C)(C)C(C)(C)C1639.2Semi standard non polarhttps://arxiv.org/abs/1905.12712
Spectra

GC-MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Predicted GC-MSPredicted GC-MS Spectrum - 2-Methyl-3-hydroxybutyric acid GC-MS (Non-derivatized) - 70eV, Positivesplash10-0097-9100000000-4296c67313a78a0150742017-09-01Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - 2-Methyl-3-hydroxybutyric acid GC-MS (2 TMS) - 70eV, Positivesplash10-00ds-9610000000-ea139d8674dafe6ab92a2017-10-06Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - 2-Methyl-3-hydroxybutyric acid GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - 2-Methyl-3-hydroxybutyric acid GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm (predicted from logP)
Biospecimen Locations
  • Urine
Tissue LocationsNot Available
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
UrineDetected and Quantified<10 umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal		 details
UrineDetected and Quantified5.0 (1.0-9.0) umol/mmol creatinineChildren (1-13 years old)BothNormal
    • Geigy Scientific ...
 details
UrineDetected and Quantified0-0.8 umol/mmol creatinineInfant (0-1 year old)Male
Normal		 details
UrineDetected and Quantified0-1.2 umol/mmol creatinineInfant (0-1 year old)Male
Normal		 details
UrineDetected and Quantified0-1.8 umol/mmol creatinineInfant (0-1 year old)Female
Normal		 details
UrineDetected and Quantified0-4.1 umol/mmol creatinineInfant (0-1 year old)Female
Normal		 details
UrineDetected and Quantified<30 umol/mmol creatinineChildren (1 - 18 years old)Both
Normal
    • BC Children's Hos...
 details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
UrineDetected and Quantified4.2 (1.6-6.7) umol/mmol creatinineAdult (>18 years old)Both
Normal		 details
UrineDetected and Quantified0.1 (0.1-4.1) umol/mmol creatinineNewborn (0-30 days old)BothNormal details
UrineDetected and Quantified0.1 (0.1-5.9) umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified1.5 (0.1-7.0) umol/mmol creatinineChildren (1-13 years old)Both
Normal		 details
UrineDetected and Quantified1.7 (0.6-2.5) umol/mmol creatinineChildren (1-13 years old)Both
Normal		 details
UrineDetected and Quantified1.2 (0.1-3.8) umol/mmol creatinineAdolescent (13-18 years old)Both
Normal		 details
UrineDetected and Quantified4.0 (1.3-6.2) umol/mmol creatinineAdult (>18 years old)Both
Normal		 details
UrineDetected and Quantified12-May umol/mmol creatinineNot SpecifiedNot SpecifiedNormal details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
UrineDetected and Quantified160.2-405.7 umol/mmol creatinineChildren (1-13 years old)Male
Beta-ketothiolase deficiency		 details
UrineDetected and Quantified441 umol/mmol creatinineNewborn (0-30 days old)Not AvailableBeta-ketothiolase deficiency details
UrineDetected and Quantified370.837-809.510 umol/mmol creatinineChildren (1 - 13 years old)Female
Ketosis
    • B. Middleton et a...
 details
UrineDetected and Quantified1 umol/mmol creatinineAdult (>18 years old)Not Specified
Propionic acidemia		 details
UrineDetected and Quantified5.5 (0.0-11.0) umol/mmol creatinineAdult (>18 years old)BothBeta-ketothiolase deficiency
    • MetaGene: Metabol...
 details
UrineDetected and Quantified2300.0 (200.0-4400.0) umol/mmol creatinineChildren (1-13 years old)BothBeta-Ketothiolase deficiency
    • MetaGene: Metabol...
 details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothBladder cancer details
UrineDetected and Quantified99 umol/mmol creatinineChildren (1-13 years old)Female
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency		 details
UrineDetected and Quantified89-226 umol/mmol creatinineInfant (0-1 year old)Male
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency		 details
Associated Disorders and Diseases
Disease References
Beta-ketothiolase deficiency
  1. Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM, Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N: Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. JIMD Rep. 2012;3:107-15. doi: 10.1007/8904_2011_72. Epub 2011 Sep 6. [PubMed:23430882 ]
  2. Scolamiero E, Cozzolino C, Albano L, Ansalone A, Caterino M, Corbo G, di Girolamo MG, Di Stefano C, Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M: Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. Mol Biosyst. 2015 Jun;11(6):1525-35. doi: 10.1039/c4mb00729h. [PubMed:25689098 ]
  3. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
Ketosis
  1. B. Middleton et al. (1986). B. Middleton et al. 3-Ketothiolase deficiency. Eur J Pediatr (1986) 144:586-589. Eur J Pediatr.
Propionic acidemia
  1. Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG: Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. [PubMed:28853722 ]
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
  1. Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res. 2005 Sep;58(3):488-91. [PubMed:16148061 ]
Associated OMIM IDs
  • 203750 (Beta-ketothiolase deficiency)
  • 606054 (Propionic acidemia)
  • 300438 (2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB021977
KNApSAcK IDNot Available
Chemspider ID141015
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN ID3786
PubChem Compound160471
PDB IDNot Available
ChEBI ID37051
Food Biomarker OntologyNot Available
VMH IDNot Available
MarkerDB IDMDB00000151
Good Scents IDNot Available
References
Synthesis ReferenceInoue, Yoshio; Sano, Fumitaka; Nakamura, Kazuhiro; Yoshie, Naoko; Saito, Yuji; Satoh, Hiroyasu; Mino, Takashi; Matsuo, Tomonori; Doi, Yoshiharu. Microstructure of copoly(3-hydroxyalkanoates) produced in the anaerobic-aerobic activated sludge process. Polymer International (1996), 39(3), 183-9.
Material Safety Data Sheet (MSDS)Not Available
General References
  1. 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 ]
  2. Landaas S: Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis. Clin Chim Acta. 1975 Oct 15;64(2):143-54. [PubMed:126826 ]
  3. 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 ]
  4. Heil M, Podebrad F, Prado E, Beck T, Mosand A, Sewell AC, Bohles H, Lehnert W: Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. J Chromatogr B Biomed Sci Appl. 2000 Mar 10;739(2):313-24. [PubMed:10755375 ]
  5. Sutton VR, O'Brien WE, Clark GD, Kim J, Wanders RJ: 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2003;26(1):69-71. [PubMed:12872843 ]

Enzymes

Enzyme Details
1. Sulfotransferase family cytosolic 2B member 1
General function:
Involved in sulfotransferase activity
Specific function:
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol.
Gene Name:
SULT2B1
Uniprot ID:
O00204
Molecular weight:
39598.595
Reactions
2-Methyl-3-hydroxybutyric acid → 2-methyl-3-(sulfooxy)butanoic aciddetails
Enzyme Details
2. UDP-glucuronosyltransferase 1-1
General function:
Involved in transferase activity, transferring hexosyl groups
Specific function:
UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone.
Gene Name:
UGT1A1
Uniprot ID:
P22309
Molecular weight:
59590.91
Reactions
2-Methyl-3-hydroxybutyric acid → 6-[(1-carboxy-1-methylpropan-2-yl)oxy]-3,4,5-trihydroxyoxane-2-carboxylic aciddetails
2-Methyl-3-hydroxybutyric acid → 3,4,5-trihydroxy-6-[(3-hydroxy-2-methylbutanoyl)oxy]oxane-2-carboxylic aciddetails