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Human Metabolome Database Version 2.5

 

Showing metabocard for 3-Hydroxymethylglutaric acid (HMDB00355)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2005-11-16 15:48:42
Update Date 2009-06-18 13:34:41
Accession Number HMDB00355
Secondary Accession Numbers Not Available
Common Name 3-Hydroxymethylglutaric acid
Description 3-Hydroxymethylglutaric acid is a metabolite that accumulates in the urine of patients affected by 3-Hydroxy-3-methylglutaric aciduria, a rare inborn error of metabolism (OMIM 246450). 3-Hydroxy-3-methylglutaric aciduria is caused by reduced enzyme activity of the intramitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (EC 4.1.3.4), the enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. The profile of urinary organic acids is different from that of the other identified defects of leucine degradation--maple syrup urine disease (OMIM 248600), isovaleric acidemia (OMIM 243500), and methylcrotonylglycinemia (OMIM 210200). Clinical manifestations include hepatomegaly, lethargy or coma and apnoea. Biochemically there is a characteristic absence of ketosis with hypoglycemia, acidosis, hipertransaminasemia and variable hyperammoniemia. The urinary organic acid profile includes elevated concentrations of 3-hydroxy-3-isovaleric, 3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids. (PMID: 10916782, 9658458, 3063529)
Synonyms
  1. 3-Hydroxy-3-methylglutarate
  2. 3-Hydroxy-3-methylglutaric acid
  3. 3-Hydroxymethylglutarate
  4. 3-Hydroxymethylglutaric acid
  5. 3-Methyl-3-hydroxyglutarate
  6. 3-Methyl-3-hydroxyglutaric acid
  7. 3-hydroxy-3-methyl-Glutaric acid
  8. CB 337
  9. Dicrotalate
  10. Dicrotalic acid
  11. b-Hydroxy-b-methylglutarate
  12. b-Hydroxy-b-methylglutaric acid
  13. beta-Hydroxy-beta-methylglutarate
  14. beta-Hydroxy-beta-methylglutaric acid
Chemical IUPAC Name 3-hydroxy-3-methylpentanedioic acid
Chemical Formula C6H10O5
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Organic acids
Class
  • Dicarboxylic Acids
Sub Class
  • Short chain dicarboxylic acids
Family
  • Mammalian Metabolite
Species
  • primary alcohol
  • carboxylic acid
Biofunction
—
Application
—
Source
  • Endogenous
Average Molecular Weight 162.141
Monoisotopic Molecular Weight 162.052826
Isomeric SMILES OCC(CC(O)=O)CC(O)=O
Canonical SMILES OCC(CC(O)=O)CC(O)=O
KEGG Compound ID C03761 Link Image
BioCyc ID Not Available
BiGG ID Not Available
Wikipedia Link 3-Hydroxy-3-methylglutaric acid Link Image
NuGOwiki Link HMDB00355 Link Image
Metagene Link HMDB00355 Link Image
METLIN ID 5344 Link Image
PubChem Compound 1662 Link Image
PubChem Substance 837449 Link Image
ChEBI ID 17325 Link Image
CAS Registry Number 503-49-1
InChI Identifier InChI=1/C6H10O5/c7-3-4(1-5(8)9)2-6(10)11/h4,7H,1-3H2,(H,8,9)(H,10,11)
Synthesis Reference Klosterman, Harold J.; Smith, F. The isolation of b-hydroxy-b-methylglutaric acid from the seed of flax (Linum usitatissimum). Journal of the American Chemical Society (1954), 76 1229-30.
Melting Point (Experimental) 105 oC
Experimental Water Solubility Not Available Source: PhysProp
Predicted Water Solubility 103.0 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge -2
State Solid
Experimental LogP/Hydrophobicity Not Available Source: PhysProp
Predicted LogP/Hydrophobicity -0.95 [Predicted by ALOGPS]; -1 [Predicted by PubChem via XLOGP] Calculated using ALOGPS
Material Safety Data Sheet (MSDS)
MOL File Show
SDF File Show
PDB File Show
2D Structure
3D Structure
Experimental PDB ID Not Available
Experimental 1H NMR Spectrum Download Spectrum
Download FID (Varian)
Show Experimental Conditions Link Image
Experimental 13C NMR Spectrum Not Available
Experimental 13C HSQC Spectrum Download Spectrum
Download FID (Bruker)
Show Experimental Conditions Link Image
Predicted 1H NMR Spectrum Show Image
Show Peaklist
Predicted 13C NMR Spectrum Show Image
Show Peaklist
Mass Spectrum
Low Energy
Download File
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Medium Energy
Download File
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High Energy
Download File
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Simplified TOCSY Spectrum Not Available
BMRB Spectrum Not Available
Cellular Location
  • Cytoplasm (Predicted from LogP)
Biofluid Location
  • Urine
Tissue Location Not Available
Concentrations (Normal)
Biofluid Urine
Value 51.7 (13.1-101.1) umol/mmol creatinine
Age Infant:0-1 yr old
Sex Female
Patient information Normal
Comments Not Available
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 Link Image]
Biofluid Urine
Value 7.1 (2.2-24.5) umol/mmol creatinine
Age Adolescent:13-18 yrs old
Sex N/A
Patient information Normal
Comments Not Available
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 Link Image]
Biofluid Urine
Value 28.1 (10.7-57.5) umol/mmol creatinine
Age Newborn:0-30 days old
Sex Both
Patient information Normal
Comments Not Available
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 Link Image]
Biofluid Urine
Value 10.3 (4.3-31.4) umol/mmol creatinine
Age Children:1-13 yrs old
Sex Both
Patient information Normal
Comments Not Available
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 Link Image]
Biofluid Urine
Value 9.9 (5.7-14.4) umol/mmol creatinine
Age Children:1-13 yrs old
Sex Both
Patient information Normal
Comments Not Available
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 Link Image]
Biofluid Urine
Value 27.0 (6.0-73.0) umol/mmol creatinine
Age Newborn:0-30 days old
Sex Both
Patient information Normal
Comments Not Available
References
  • Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
Biofluid Urine
Value 1.4 (0.7-3.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • Geigy Scientific Tables, 8th Rev edition, pp. 130. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp. Basel, Switzerland c1981-1992.
Biofluid Urine
Value 27.9 (6.2-49.7) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
Concentrations (Abnormal)
Biofluid Urine
Value 5600.0 (200.0-11000.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Condition 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Comments Not Available
References
Associated Disorders
Condition References
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
OMIM ID
  • 246450 Link Image (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
Pathways 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 Link Image]
  2. Fu Z, Runquist JA, Forouhar F, Hussain M, Hunt JF, Miziorko HM, Kim JJ: Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria. J Biol Chem. 2006 Mar 17;281(11):7526-32. Epub 2005 Dec 5. [PubMed Link Image]
  3. 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 Link Image]
  4. Wysocki SJ, Wilkinson SP, Hahnel R, Wong CY, Panegyres PK: 3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria. Clin Chim Acta. 1976 Aug 2;70(3):399-406. [PubMed Link Image]
  5. Tuchman M, McCann MT, Johnson PE, Lemieux B: Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development. Pediatr Res. 1991 Oct;30(4):315-21. [PubMed Link Image]
  6. Truscott RJ, Halpern B, Wysocki SJ, Hahnel R, Wilcken B: Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase. Clin Chim Acta. 1979 Jul 2;95(1):11-16. [PubMed Link Image]
  7. Wikipedia Link Image