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Record Information
Version5.0
StatusDetected and Quantified
Creation Date2005-11-16 15:48:42 UTC
Update Date2021-09-14 15:20:02 UTC
HMDB IDHMDB0000694
Secondary Accession Numbers
  • HMDB00694
Metabolite Identification
Common NameL-2-Hydroxyglutaric acid
DescriptionL-2-Hydroxyglutaric acid is a metabolite that accumulates in L-2-hydroxyglutaric aciduria, which is a neurometabolic disorder (OMIM: 236792 ), and has been reported in multiple patients who have a clinical phenotype of progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and spongiform changes in the white matter (OMIM: 600721 ). In humans, 2-hydroxyglutarate is formed by a hydroxyacid-oxoacid transhydrogenase whereas in bacteria it is formed by a 2-hydroxyglutarate synthase. L-2-Hydroxyglutaric acid can be converted to alpha-ketoglutaric acid through the action of 2-hydroxyglutarate dehydrogenase (EC 1.1.99.2). In humans, there are two such enzymes (D2HGDH and L2HGDH). Both the D and L stereoisomers of hydroxyglutaric acid are found in body fluids. L-2-Hydroxyglutaric acid can also be produced via gain-of-function mutations in the cytosolic and mitochondrial isoforms of isocitrate dehydrogenase (IDH). IDH is part of the TCA cycle and this compound is generated in high abundance when IDH is mutated. Since L-2-hydroxyglutaric acid is sufficiently similar in structure to 2-oxoglutarate (2OG), it is able to inhibit a range of 2OG-dependent dioxygenases, including histone lysine demethylases (KDMs) and members of the ten-eleven translocation (TET) family of 5-methylcytosine (5mC) hydroxylases. This inhibitory effect leads to alterations in the hypoxia-inducible factor (HIF)-mediated hypoxic response and alterations in gene expression through global epigenetic remodeling. The net effect is that L-2-hydroxyglutaric acid causes a cascading effect that leads genetic perturbations and malignant transformation. Depending on the circumstances, L-2-hydroxyglutaric acid can function as an oncometabolite, a neurotoxin, an acidogen, and a metabotoxin. An oncometabolite is a compound that promotes tumour growth and survival. A neurotoxin is compound that is toxic to neurons or neural tissue. 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. As an oncometabolite, L-2-hydroxyglutaric acid is a competitive inhibitor of multiple alpha-ketoglutarate-dependent dioxygenases, including histone demethylases and the TET family of 5mC hydroxylases. As a result, high levels of 2-hydroxyglutarate lead to genome-wide histone and DNA methylation alterations, which in turn lead to mutations that ultimately cause cancer (PMID: 29038145 ). As a neurotoxin, L-2-hydroxyglutaric acid mediates its neurotoxicity through activation of N-methyl-D-aspartate receptors. L-2-Hydroxyglutaric acid is structurally similar to the excitatory amino acid glutamate and stimulates neurodegeneration by mechanisms similar to glutamate, NMDA, or mitochondrial toxins (PMID: 12153528 ). As an acidogen, L-2-hydroxyglutaric acid is classified as an alpha hydroxy acid belonging to the general class of compounds known as organic acids. Chronically high levels of L-2-hydroxyglutaric acid are characteristic of the inborn error of metabolism called L-2-hydroxyglutaric aciduria. 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 the symptoms typical of untreated L-2-hydroxyglutaric aciduria. 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?1582752149
Synonyms
ValueSource
(S)-2-HydroxyglutarateChEBI
(S)-2-Hydroxyglutaric acidGenerator
L-2-HydroxyglutarateGenerator
(S)-Α-hydroxyglutarateHMDB
(S)-Α-hydroxyglutaric acidHMDB
(S)-alpha-HydroxyglutarateHMDB
(S)-alpha-Hydroxyglutaric acidHMDB
2-Hydroxy-(S)-pentanedioateHMDB
2-Hydroxy-(S)-pentanedioic acidHMDB
2-Hydroxy-L-glutarateHMDB
2-Hydroxy-L-glutaric acidHMDB
L-Α-hydroxyglutarateHMDB
L-Α-hydroxyglutaric acidHMDB
L-alpha-HydroxyglutarateHMDB
L-alpha-Hydroxyglutaric acidHMDB
L-2-Hydroxyglutaric acidHMDB
Chemical FormulaC5H8O5
Average Molecular Weight148.114
Monoisotopic Molecular Weight148.037173366
IUPAC Name(2S)-2-hydroxypentanedioic acid
Traditional NameL-2-hydroxyglutaric acid
CAS Registry Number13095-48-2
SMILES
O[C@@H](CCC(O)=O)C(O)=O
InChI Identifier
InChI=1S/C5H8O5/c6-3(5(9)10)1-2-4(7)8/h3,6H,1-2H2,(H,7,8)(H,9,10)/t3-/m0/s1
InChI KeyHWXBTNAVRSUOJR-VKHMYHEASA-N
Chemical Taxonomy
Description Belongs to the class of organic compounds known as short-chain hydroxy acids and derivatives. These are hydroxy acids with an alkyl chain the contains less than 6 carbon atoms.
KingdomOrganic compounds
Super ClassOrganic acids and derivatives
ClassHydroxy acids and derivatives
Sub ClassShort-chain hydroxy acids and derivatives
Direct ParentShort-chain hydroxy acids and derivatives
Alternative Parents
Substituents
  • Short-chain hydroxy acid
  • Fatty acid
  • Monosaccharide
  • Dicarboxylic acid or derivatives
  • Alpha-hydroxy acid
  • Secondary alcohol
  • Carboxylic acid
  • Carboxylic acid derivative
  • Organic oxygen compound
  • Organic oxide
  • Hydrocarbon derivative
  • Organooxygen compound
  • Carbonyl group
  • Alcohol
  • 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 PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Experimental Spectral Properties

Experimental Collision Cross Sections

PredictorAdduct TypeData SourceCCS Value (Å2)Reference
AllCCS[M-H]-Not Available119.063http://allccs.zhulab.cn/database/detail?ID=AllCCS00000025
Predicted Molecular Properties
PropertyValueSource
Water Solubility157 g/LALOGPS
logP10(-1) g/LALOGPS
logP10(-0.82) g/LChemAxon
logS10(0.03) g/LALOGPS
pKa (Strongest Acidic)3.28ChemAxon
pKa (Strongest Basic)-3.8ChemAxon
Physiological Charge-2ChemAxon
Hydrogen Acceptor Count5ChemAxon
Hydrogen Donor Count3ChemAxon
Polar Surface Area94.83 ŲChemAxon
Rotatable Bond Count4ChemAxon
Refractivity29.63 m³·mol⁻¹ChemAxon
Polarizability12.97 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]+31661259
DarkChem[M-H]-31661259
AllCCS[M+H]+134.03432859911
AllCCS[M-H]-126.53232859911

Predicted Kovats Retention Indices

Derivatized

Derivative Name / StructureSMILESKovats RI ValueColumn TypeReference
L-2-Hydroxyglutaric acid,1TMS,#1C[Si](C)(C)O[C@@H](CCC(=O)O)C(=O)O1441.3Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,1TMS,#2C[Si](C)(C)OC(=O)CC[C@H](O)C(=O)O1442.3Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,1TMS,#3C[Si](C)(C)OC(=O)[C@@H](O)CCC(=O)O1400.3Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,2TMS,#1C[Si](C)(C)OC(=O)CC[C@H](O[Si](C)(C)C)C(=O)O1536.2Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,2TMS,#2C[Si](C)(C)OC(=O)[C@H](CCC(=O)O)O[Si](C)(C)C1504.0Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,2TMS,#3C[Si](C)(C)OC(=O)CC[C@H](O)C(=O)O[Si](C)(C)C1476.7Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,3TMS,#1C[Si](C)(C)OC(=O)CC[C@H](O[Si](C)(C)C)C(=O)O[Si](C)(C)C1584.8Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,1TBDMS,#1CC(C)(C)[Si](C)(C)O[C@@H](CCC(=O)O)C(=O)O1698.7Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,1TBDMS,#2CC(C)(C)[Si](C)(C)OC(=O)CC[C@H](O)C(=O)O1702.2Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,1TBDMS,#3CC(C)(C)[Si](C)(C)OC(=O)[C@@H](O)CCC(=O)O1672.0Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,2TBDMS,#1CC(C)(C)[Si](C)(C)OC(=O)CC[C@H](O[Si](C)(C)C(C)(C)C)C(=O)O1992.1Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,2TBDMS,#2CC(C)(C)[Si](C)(C)OC(=O)[C@H](CCC(=O)O)O[Si](C)(C)C(C)(C)C1979.7Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,2TBDMS,#3CC(C)(C)[Si](C)(C)OC(=O)CC[C@H](O)C(=O)O[Si](C)(C)C(C)(C)C1935.0Semi standard non polarhttps://arxiv.org/abs/1905.12712
L-2-Hydroxyglutaric acid,3TBDMS,#1CC(C)(C)[Si](C)(C)OC(=O)CC[C@H](O[Si](C)(C)C(C)(C)C)C(=O)O[Si](C)(C)C(C)(C)C2222.5Semi standard non polarhttps://arxiv.org/abs/1905.12712
Spectra

GC-MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Predicted GC-MSPredicted GC-MS Spectrum - L-2-Hydroxyglutaric acid GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum
Predicted GC-MSPredicted GC-MS Spectrum - L-2-Hydroxyglutaric acid GC-MS (Non-derivatized) - 70eV, PositiveNot Available2021-10-12Wishart LabView Spectrum

MS/MS Spectra

Spectrum TypeDescriptionSplash KeyDeposition DateSourceView
Experimental LC-MS/MSLC-MS/MS Spectrum - L-2-Hydroxyglutaric acid Quattro_QQQ 10V, Positive-QTOF (Annotated)splash10-05mk-1900000000-c8b7818c2a1224f0b6942012-07-24HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - L-2-Hydroxyglutaric acid Quattro_QQQ 25V, Positive-QTOF (Annotated)splash10-000i-9000000000-fc923f875e23e766078c2012-07-24HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 40V, Negative-QTOFsplash10-0a4i-9000000000-9fb296154571d7ea7d132021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 20V, Negative-QTOFsplash10-0a4i-9400000000-821ae25c1b9ac04003b72021-09-20HMDB team, MONAView Spectrum
Experimental LC-MS/MSLC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 10V, Negative-QTOFsplash10-004i-3900000000-dc8454bb187902d1a08b2021-09-20HMDB team, MONAView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 10V, Positive-QTOFsplash10-001i-1900000000-68ac8b23cf0ed0cf09f52019-02-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 20V, Positive-QTOFsplash10-0m5r-9600000000-fb8fb6611cf2b1bca9f72019-02-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 40V, Positive-QTOFsplash10-0a4i-9000000000-4912ecf3489ec68e96412019-02-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 10V, Negative-QTOFsplash10-002b-0900000000-116ef9fca434a654a8f92019-02-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 20V, Negative-QTOFsplash10-0zi9-5900000000-76cefbf1a7e32ce74bef2019-02-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 40V, Negative-QTOFsplash10-0a4i-9000000000-c4562468d1b81effdb632019-02-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 10V, Positive-QTOFsplash10-0w39-4900000000-1385b471f7cdf14ca14d2021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 20V, Positive-QTOFsplash10-052r-9500000000-17ece6956644d4cf20692021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 40V, Positive-QTOFsplash10-0a4r-9000000000-dbb4195080bddb5f62102021-09-22Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 10V, Negative-QTOFsplash10-0fbi-3900000000-f88fcf3ac0dd06636b162021-09-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 20V, Negative-QTOFsplash10-0k9i-9400000000-31bf8d3bb7203e7bf2002021-09-23Wishart LabView Spectrum
Predicted LC-MS/MSPredicted LC-MS/MS Spectrum - L-2-Hydroxyglutaric acid 40V, Negative-QTOFsplash10-0a4u-9000000000-c0ac45c4d66178ac20cf2021-09-23Wishart LabView Spectrum

NMR Spectra

Spectrum TypeDescriptionDeposition DateSourceView
Predicted 1D NMR13C NMR Spectrum (1D, 100 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 100 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 1000 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 1000 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 200 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 200 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 300 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 300 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 400 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 400 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 500 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 500 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 600 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 600 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 700 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 700 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 800 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 800 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR13C NMR Spectrum (1D, 900 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Predicted 1D NMR1H NMR Spectrum (1D, 900 MHz, D2O, predicted)2021-09-29Wishart LabView Spectrum
Experimental 1D NMR1H NMR Spectrum (1D, 500 MHz, H2O, experimental)2021-10-10Wishart LabView Spectrum
Experimental 2D NMR[1H, 13C]-HSQC NMR Spectrum (2D, 600 MHz, H2O, experimental)2012-12-05Wishart LabView Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm (predicted from logP)
  • Mitochondria
Biospecimen Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Feces
  • Saliva
  • Urine
Tissue LocationsNot Available
Pathways
Normal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified1.5 (0.0-1.5) uMAdult (>18 years old)BothNormal details
BloodDetected and Quantified0.5-1.0 uMInfant (0-1 year old)BothNormal details
BloodDetected and Quantified0.6(0.5-1.0) uMInfant (0-1 year old)FemaleNormal details
BloodDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
BloodDetected and Quantified0 uMChildren (1 - 13 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.3-2.3 uMInfant (0-1 year old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified0.7(0.3-2.3) uMInfant (0-1 year old)FemaleNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified1 uMChildren (1-13 years old)BothNormal details
Cerebrospinal Fluid (CSF)Detected and Quantified1.0 +/- 1.0 uMAdult (>18 years old)Not SpecifiedNormal details
FecesDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
FecesDetected but not QuantifiedNot QuantifiedNot SpecifiedNot Specified
Normal
details
SalivaDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
    • Zerihun T. Dame, ...
details
UrineDetected and Quantified24.379 +/- 9.126 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Normal
    • Mordechai, Hien, ...
details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)BothNormal details
UrineDetected and Quantified51.9 (13.7-97.3) umol/mmol creatinineNewborn (0-30 days old)BothNormal details
UrineDetected and Quantified41.5 (14.6-150.3) umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified12.4 (5.1-24.9) umol/mmol creatinineChildren (1-13 years old)BothNormal details
UrineDetected and Quantified11.2 (4.6-33.6) umol/mmol creatinineAdolescent (13-18 years old)BothNormal details
UrineDetected and Quantified2.2 (0.8-52) umol/mmol creatinineAdult (>18 years old)BothNormal details
UrineDetected and Quantified<26.15 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 Quantified33.0 (13.3-77.9) umol/mmol creatinineAdult (>18 years old)Both
Normal
details
UrineDetected and Quantified<2.5 umol/mmol creatinineAdolescent (13-18 years old)MaleNormal details
UrineDetected and Quantified1.3-19 umol/mmol creatinineInfant (0-1 year old)BothNormal details
UrineDetected and Quantified6(1.3-19) umol/mmol creatinineInfant (0-1 year old)FemaleNormal details
Abnormal Concentrations
BiospecimenStatusValueAgeSexConditionReferenceDetails
BloodDetected and Quantified47.0 +/- 13.0 uMAdult (>18 years old)BothL-2-hydroxyglutaric aciduria details
BloodDetected and Quantified23 uMAdolescent (13-18 years old)MaleL-2-hydroxyglutaric aciduria details
BloodDetected and Quantified2.0(1.1-3.0) uMInfant (0-1 year old)BothCombined D,L-2-hydroxyglutaric aciduria details
BloodDetected and Quantified47(27-62) uMInfant (0-1 year old)FemaleL-2-Hydroxyglutaric aciduria details
Cerebrospinal Fluid (CSF)Detected and Quantified30 uMAdolescent (13-18 years old)MaleL-2-hydroxyglutaric aciduria details
Cerebrospinal Fluid (CSF)Detected and Quantified62 (34-100) uMInfant (0-1 year old)FemaleL-2-Hydroxyglutaric aciduria details
UrineDetected and Quantified145 umol/mmol creatinineChildren (1-13 years old)Male
D, L-2-hydroxyglutaric aciduria
details
UrineDetected and Quantified61.074 +/- 36.982 umol/mmol creatinineChildren (1 - 13 years old)Not Specified
Eosinophilic esophagitis
    • Mordechai, Hien, ...
details
UrineDetected and Quantified76-83 umol/mmol creatinineInfant (0-1 year old)MaleD-2-hydroxyglutaric aciduria details
UrineDetected but not QuantifiedNot QuantifiedAdult (>18 years old)Both
Bladder cancer
details
UrineDetected and Quantified32 umol/mmol creatinineInfant (0-1 year old)FemaleD,L-2-Hydroxyglutaric aciduria details
UrineDetected and Quantified60 umol/mmol creatinineInfant (0-1 year old)Female
D2-/L2-hydroxyglutaric aciduria
details
UrineDetected and Quantified122 umol/mmol creatinineInfant (0-1 year old)FemaleD2-/L2-hydroxyglutaric aciduria details
UrineDetected and Quantified942 umol/mmol creatinineAdolescent (13-18 years old)MaleL-2-hydroxyglutaric aciduria details
UrineDetected and Quantified161(64-247) umol/mmol creatinineInfant (0-1 year old)BothCombined D,L-2-hydroxyglutaric aciduria details
Associated Disorders and Diseases
Disease References
L-2-Hydroxyglutaric aciduria
  1. Gibson KM, ten Brink HJ, Schor DS, Kok RM, Bootsma AH, Hoffmann GF, Jakobs C: Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res. 1993 Sep;34(3):277-80. [PubMed:8134166 ]
  2. Seijo-Martinez M, Navarro C, Castro del Rio M, Vila O, Puig M, Ribes A, Butron M: L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch Neurol. 2005 Apr;62(4):666-70. [PubMed:15824270 ]
  3. Gibson KM, Craigen W, Herman GE, Jakobs C: D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis. 1993;16(3):497-500. [PubMed:7609436 ]
  4. G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
D, L-2-hydroxyglutaric aciduria
  1. Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C: Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. [PubMed:22391998 ]
  2. Gibson KM, Craigen W, Herman GE, Jakobs C: D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? J Inherit Metab Dis. 1993;16(3):497-500. [PubMed:7609436 ]
  3. Muntau AC, Roschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA: Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics. 2000 Jun;31(3):137-40. doi: 10.1055/s-2000-7497. [PubMed:10963100 ]
  4. 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. .
D-2-hydroxyglutaric aciduria
  1. Wajne M, Vargas CR, Funayama C, Fernandez A, Elias ML, Goodman SI, Jakobs C, van der Knaap MS: D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings. J Inherit Metab Dis. 2002 Feb;25(1):28-34. [PubMed:11999977 ]
Associated OMIM IDs
  • 236792 (L-2-Hydroxyglutaric aciduria)
  • 615182 (D, L-2-hydroxyglutaric aciduria)
  • 610247 (Eosinophilic esophagitis)
  • 600721 (D-2-hydroxyglutaric aciduria)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDFDB022185
KNApSAcK IDNot Available
Chemspider ID388969
KEGG Compound IDC03196
BioCyc IDCPD-381
BiGG IDNot Available
Wikipedia LinkAlpha-Hydroxyglutaric acid
METLIN IDNot Available
PubChem Compound439939
PDB IDNot Available
ChEBI ID32797
Food Biomarker OntologyNot Available
VMH IDNot Available
MarkerDB IDMDB00000222
Good Scents IDNot Available
References
Synthesis ReferenceKobayashi, Hidehiko; Yamaguchi, Koretaka; Yamashita, Takeshi. a-Hydroxyglutaric acid from glutamic acid. Jpn. Tokkyo Koho (1968), 3 pp.
Material Safety Data Sheet (MSDS)Download (PDF)
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. Gibson KM, ten Brink HJ, Schor DS, Kok RM, Bootsma AH, Hoffmann GF, Jakobs C: Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res. 1993 Sep;34(3):277-80. [PubMed:8134166 ]
  3. Rashed MS, AlAmoudi M, Aboul-Enein HY: Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxyglutaric acid in urine. Biomed Chromatogr. 2000 Aug;14(5):317-20. [PubMed:10960831 ]
  4. Fujitake J, Ishikawa Y, Fujii H, Nishimura K, Hayakawa K, Inoue F, Terada N, Okochi M, Tatsuoka Y: L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J Neurol. 1999 May;246(5):378-82. [PubMed:10399870 ]
  5. Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RB, Trefz FK, et al.: L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol. 1992 Jul;32(1):66-71. [PubMed:1642474 ]
  6. de Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M: L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship. Neuropediatrics. 1997 Dec;28(6):314-7. [PubMed:9453028 ]
  7. Collins RRJ, Patel K, Putnam WC, Kapur P, Rakheja D: Oncometabolites: A New Paradigm for Oncology, Metabolism, and the Clinical Laboratory. Clin Chem. 2017 Dec;63(12):1812-1820. doi: 10.1373/clinchem.2016.267666. Epub 2017 Oct 16. [PubMed:29038145 ]
  8. Kolker S, Pawlak V, Ahlemeyer B, Okun JG, Horster F, Mayatepek E, Krieglstein J, Hoffmann GF, Kohr G: NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci. 2002 Jul;16(1):21-8. [PubMed:12153528 ]

Enzymes

General function:
Involved in 2-hydroxyglutarate dehydrogenase activity
Specific function:
Not Available
Gene Name:
L2HGDH
Uniprot ID:
Q9H9P8
Molecular weight:
50315.58
Reactions
L-2-Hydroxyglutaric acid + acceptor → Oxoglutaric acid + reduced acceptordetails