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Human Metabolome Database Version 3.5

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Showing metabocard for L-2-Hydroxyglutaric acid (HMDB00694)

Record Information
Version 3.5
Creation Date 2005-11-16 08:48:42 -0700
Update Date 2013-02-08 17:09:07 -0700
HMDB ID HMDB00694
Secondary Accession Numbers None
Metabolite Identification
Common Name L-2-Hydroxyglutaric acid
Description L-2-Hydroxyglutaric acid is a metabolite that accumulates in D-2-hydroxyglutaric aciduria (a neurometabolic disorder, OMIM 236792 Link_out), 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 Link_out) and Spondyloenchondrodysplasia (OMIM 271550 Link_out).
Structure Thumb
Download: MOL | SDF | SMILES | InChI
Display: 2D Structure | 3D Structure
Synonyms
  1. (S)-2-Hydroxyglutarate
  2. (S)-2-Hydroxyglutaric acid
  3. (S)-a-Hydroxyglutarate
  4. (S)-a-Hydroxyglutaric acid
  5. (S)-alpha-Hydroxyglutarate
  6. (S)-alpha-Hydroxyglutaric acid
  7. 2-Hydroxy-(S)-Pentanedioate
  8. 2-Hydroxy-(S)-Pentanedioic acid
  9. 2-Hydroxy-L-Glutarate
  10. 2-Hydroxy-L-Glutaric acid
  11. L-2-Hydroxyglutarate
  12. L-a-Hydroxyglutarate
  13. L-a-Hydroxyglutaric acid
  14. L-alpha-Hydroxyglutarate
  15. L-alpha-Hydroxyglutaric acid
Chemical Formula C5H8O5
Average Molecular Weight 148.114
Monoisotopic Molecular Weight 148.037173366
IUPAC Name (2S)-2-hydroxypentanedioic acid
Traditional IUPAC Name L-2-hydroxy-glutaric acid
CAS Registry Number 13095-48-2
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 Key HWXBTNAVRSUOJR-VKHMYHEASA-N
Chemical Taxonomy
Kingdom Organic Compounds
Super Class Organic Acids and Derivatives
Class Hydroxy Acids and Derivatives
Sub Class Alpha Hydroxy Acids and Derivatives
Other Descriptors
  • 2-hydroxyglutaric acid(ChEBI)
  • Aliphatic Acyclic Compounds
  • Dicarboxylic Acids and Derivatives
  • Fatty Acids and Conjugates
  • Short-chain Hydroxy Acids and Derivatives
Substituents
  • Carboxylic Acid
  • Secondary Alcohol
Direct Parent Alpha Hydroxy Acids and Derivatives
Ontology
Status Detected and Quantified
Origin
  • Endogenous
Biofunction
  • Component of Butanoate metabolism
Application Not Available
Cellular locations
  • Cytoplasm (predicted from logP)
Physical Properties
State Solid
Experimental Properties
Property Value Reference
Melting Point Not Available Not Available
Boiling Point Not Available Not Available
Water Solubility Not Available Not Available
LogP Not Available Not Available
Predicted Properties
Property Value Source
Water Solubility 157 g/L ALOGPS
LogP -1.04 ALOGPS
LogP -0.82 ChemAxon
LogS 0.03 ALOGPS
pKa (strongest acidic) 3.28 ChemAxon
pKa (strongest basic) -3.8 ChemAxon
Hydrogen Acceptor Count 5 ChemAxon
Hydrogen Donor Count 3 ChemAxon
Polar Surface Area 94.83 A2 ChemAxon
Rotatable Bond Count 4 ChemAxon
Refractivity 29.63 ChemAxon
Polarizability 12.97 ChemAxon
Formal Charge 0 ChemAxon
Physiological Charge -2 ChemAxon
Spectra
1H NMR Spectrum
MS/MS Spectrum Quattro_QQQ 10
MS/MS Spectrum Quattro_QQQ 25
[1H,13C] 2D NMR Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm (predicted from logP)
Biofluid Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Urine
Tissue Location Not Available
Pathways Not Available
Normal Concentrations
Biofluid Status Value Age Sex Condition Comments
Blood Detected and Quantified
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1.5 (0.0-1.5) uM Adult (>18 years old) Both Normal Not Available
Cerebrospinal Fluid (CSF) Detected and Quantified
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1 uM Children (1-13 year old) Both Normal Not Available
Cerebrospinal Fluid (CSF) Detected and Quantified
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1.0 +/- 1.0 uM Adult (>18 years old) Not Specified Normal Not Available
Urine Detected and Quantified
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51.9 (13.7-97.3) umol/mmol creatinine Newborn (0-30 days old) Both Normal Not Available
Urine Detected and Quantified
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41.5 (14.6-150.3) 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 Quantified
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12.4 (5.1-24.9) umol/mmol creatinine Children (1-13 year old) Both Normal Not Available
Urine Detected and Quantified
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11.2 (4.6-33.6) umol/mmol creatinine Adolescent (13-18 years old) Both Normal Not Available
Urine Detected and Quantified
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2.2 (0.8-52) umol/mmol creatinine Adult (>18 years old) Both Normal Not Available
Urine Detected and Quantified
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33.0 (13.3-77.9) umol/mmol creatinine Adult (>18 years old) Both Normal urine by NMR
Urine Detected and Quantified
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33.0 (20.0-46.0) umol/mmol creatinine Adult (>18 years old) Both Normal Not Available
Abnormal Concentrations
Biofluid Status Value Age Sex Condition Comments
Blood Detected and Quantified
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47.0 +/- 13.0 uM Adult (>18 years old) Both L-2-hydroxyglutaric aciduria Not Available
Blood Detected and Quantified
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0.75 (0.0-1.5) uM Adult (>18 years old) Both 2-Hydroxyglutaric acidemia Not Available
Blood Detected and Quantified
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33.3 (7.0-61.0) uM Adult (>18 years old) Both 2-Hydroxyglutaric Acidemia (L) Not Available
Urine Detected and Quantified
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50.00-4300.00 umol/mmol creatinine Adult (>18 years old) Both 2-Hydroxyglutaric acidemia (L) Not Available
Associated Disorders and Diseases
Disease References
L-2-hydroxyglutaric aciduria
  • 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 Link_out
    2-hydroxyglutaric aciduria
      • http://www.metagene.de/program/d.prg?mp=2-HYDROXYGLUTARIC%20ACIDEMIA%20(L)
      • Metagene: 2-HYDROXYGLUTARIC ACIDEMIA (L)
      Associated OMIM IDs
      • 236792 Link_out (2-hydroxyglutaric aciduria)
      • 236792 Link_out (L-2-hydroxyglutaric aciduria)
      DrugBank ID Not Available
      Phenol Explorer Compound ID Not Available
      Phenol Explorer Metabolite ID Not Available
      FoodDB ID FDB022185
      KNApSAcK ID Not Available
      Chemspider ID 388969 Link_out
      KEGG Compound ID C03196 Link_out
      BioCyc ID Not Available
      BiGG ID Not Available
      Wikipedia Link Not Available
      NuGOwiki Link HMDB00694 Link_out
      Metagene Link HMDB00694 Link_out
      METLIN ID 5662 Link_out
      PubChem Compound 439939 Link_out
      PDB ID S2G Link_out
      ChEBI ID 32797 Link_out
      References
      Synthesis Reference Kobayashi, 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 Link_out
      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 Link_out
      3. 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 Link_out
      4. 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 Link_out
      5. 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 Link_out
      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 Link_out
      Enzymes
      Name: L-2-hydroxyglutarate dehydrogenase, mitochondrial
      Reactions:
      • (S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor [RN:R00298]
      Gene Name: L2HGDH
      Uniprot ID: Q9H9P8 Link_out
      Protein Sequence: FASTA
      Gene Sequence: FASTA