| 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 ), 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 ) and Spondyloenchondrodysplasia (OMIM 271550 ). |
| Structure |
Download:
MOL |
SDF |
SMILES |
InChI
Display:
2D Structure |
3D Structure
|
| Synonyms |
- (S)-2-Hydroxyglutarate
- (S)-2-Hydroxyglutaric acid
- (S)-a-Hydroxyglutarate
- (S)-a-Hydroxyglutaric acid
- (S)-alpha-Hydroxyglutarate
- (S)-alpha-Hydroxyglutaric acid
- 2-Hydroxy-(S)-Pentanedioate
- 2-Hydroxy-(S)-Pentanedioic acid
- 2-Hydroxy-L-Glutarate
- 2-Hydroxy-L-Glutaric acid
- L-2-Hydroxyglutarate
- L-a-Hydroxyglutarate
- L-a-Hydroxyglutaric acid
- L-alpha-Hydroxyglutarate
- 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 |
|
| 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 |
|
| Spectra |
|
|
| Biological Properties |
| Cellular Locations |
- Cytoplasm (predicted from logP)
|
| Biofluid Locations |
- Blood
- Cerebrospinal Fluid (CSF)
- Urine
|
| Tissue Location |
Not Available
|
| Pathways |
Not Available
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| Normal Concentrations |
|
| Blood |
Detected and Quantified |
|
1.5 (0.0-1.5) uM |
Adult (>18 years old) |
Both |
Normal |
Not Available |
| Cerebrospinal Fluid (CSF) |
Detected and Quantified |
|
1 uM |
Children (1-13 year old) |
Both |
Normal |
Not Available |
| Cerebrospinal Fluid (CSF) |
Detected and Quantified |
|
1.0 +/- 1.0 uM |
Adult (>18 years old) |
Not Specified |
Normal |
Not Available |
| Urine |
Detected and Quantified |
|
51.9 (13.7-97.3) umol/mmol creatinine |
Newborn (0-30 days old) |
Both |
Normal |
Not Available |
| Urine |
Detected and Quantified |
|
41.5 (14.6-150.3) umol/mmol creatinine |
Infant (0-1 year old) |
Both |
Normal |
Not Available |
| Urine |
Detected and not Quantified |
|
Not Applicable |
Adult (>18 years old) |
Both |
Normal |
Urine compound detected by GC-MS
|
| Urine |
Detected and Quantified |
|
12.4 (5.1-24.9) umol/mmol creatinine |
Children (1-13 year old) |
Both |
Normal |
Not Available |
| Urine |
Detected and Quantified |
|
11.2 (4.6-33.6) umol/mmol creatinine |
Adolescent (13-18 years old) |
Both |
Normal |
Not Available |
| Urine |
Detected and Quantified |
|
2.2 (0.8-52) umol/mmol creatinine |
Adult (>18 years old) |
Both |
Normal |
Not Available |
| Urine |
Detected and Quantified |
|
33.0 (13.3-77.9) umol/mmol creatinine |
Adult (>18 years old) |
Both |
Normal |
urine by NMR
|
| Urine |
Detected and Quantified |
|
33.0 (20.0-46.0) umol/mmol creatinine |
Adult (>18 years old) |
Both |
Normal |
Not Available |
|
| Abnormal Concentrations |
|
| Blood |
Detected and Quantified |
|
47.0 +/- 13.0 uM |
Adult (>18 years old) |
Both |
L-2-hydroxyglutaric aciduria |
Not Available |
| Blood |
Detected and Quantified |
|
0.75 (0.0-1.5) uM |
Adult (>18 years old) |
Both |
2-Hydroxyglutaric acidemia |
Not Available |
| Blood |
Detected and Quantified |
|
33.3 (7.0-61.0) uM |
Adult (>18 years old) |
Both |
2-Hydroxyglutaric Acidemia (L) |
Not Available |
| Urine |
Detected and Quantified |
|
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
|
| 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
(2-hydroxyglutaric aciduria)
- 236792
(L-2-hydroxyglutaric aciduria)
|
| External Links |
| 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  |
| KEGG Compound ID |
C03196  |
| BioCyc ID |
Not Available |
| BiGG ID |
Not Available |
| Wikipedia Link |
Not Available |
| NuGOwiki Link |
HMDB00694  |
| Metagene Link |
HMDB00694  |
| METLIN ID |
5662  |
| PubChem Compound |
439939  |
| PDB ID |
S2G  |
| ChEBI ID |
32797  |
| 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 |
- 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
- 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
- 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
- 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
- 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
- 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
|