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Human Metabolome Database Version 2.5

 

Showing metabocard for 3-Hydroxyisovaleric acid (HMDB00754)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2005-11-16 15:48:42
Update Date 2010-01-13 12:05:04
Accession Number HMDB00754
Secondary Accession Numbers Not Available
Common Name 3-Hydroxyisovaleric acid
Description 3-Hydroxyisovaleric acid is a normal human metabolite excreted in the urine. Elevated levels of this compound are found in several inherited disorders such as Dihydrolipoamide dehydrogenase Deficiency, 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-hydroxy-3-methylglutaryl -CoA lyase Deficiency, Biotinidase deficiency multiple carboxylase deficiency late-onset , Late onset multiple carboxylase deficiency, HolMcarboxylase synthetase deficiency, 3-Methylcrotonyl-CoA carboxylase 2 deficiency. 3-Hydroxyisovaleric acid is also elevated in smokers, in subjects undergoing long-term anticonvulsant therapy with carbamazepine and/or phenytoin. These levels are elevated due to impairment of renal reclamation of biotin. Levels may also be increased from prolonged consumption of raw egg-whites (PMID: 16895887, 9523856, 15447901, 9176832)(OMIM: 210210, 253270, 600529, 253260, 246450, 210200, 238331)
Synonyms
  1. 3-Hydroxy-3-methylbutanoate
  2. 3-Hydroxy-3-methylbutanoic acid
  3. 3-Hydroxy-3-methylbutyrate
  4. 3-Hydroxy-3-methylbutyric acid
  5. 3-Hydroxyisovalerate
  6. 3-hydroxy-isovaleric acid
  7. 3-hydroxyisovaleric acid
  8. 3-hydroxy-3-methyl-Butanoic acid
  9. 3-hydroxy-3-methyl-Butyric acid
  10. 3-OH-isovaleric acid
  11. B-hydroxy-b-methylbutyrate
  12. B-hydroxy-b-methylbutyric acid
  13. B-hydroxyisovalerate
  14. B-hydroxyisovaleric acid
  15. beta-hydroxy-beta-methylbutyrate
  16. beta-hydroxy-beta-methylbutyric acid
  17. beta-hydroxyisovalerate
  18. beta-hydroxyisovaleric acid
  19. 3-hydroxy-3-methyl-Butanoate
Chemical IUPAC Name 3-hydroxy-3-methyl-Butanoic acid
Chemical Formula C5H10O3
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Organic acids
Class
  • Hydroxy Acids
Sub Class
  • Short chain hydroxy acids
Family
  • Mammalian Metabolite
Species
  • tertiary alcohol
  • carboxylic acid
Biofunction
—
Application
—
Source
  • Endogenous
Average Molecular Weight 118.131
Monoisotopic Molecular Weight 118.062996
Isomeric SMILES CC(C)(O)CC(O)=O
Canonical SMILES CC(C)(O)CC(O)=O
KEGG Compound ID Not Available
BioCyc ID Not Available
BiGG ID Not Available
Wikipedia Link Not Available
NuGOwiki Link HMDB00754 Link Image
Metagene Link HMDB00754 Link Image
METLIN ID 5722 Link Image
PubChem Compound 69362 Link Image
PubChem Substance Not Available
ChEBI ID Not Available
CAS Registry Number 625-08-1
InChI Identifier InChI=1/C5H10O3/c1-5(2,8)3-4(6)7/h8H,3H2,1-2H3,(H,6,7)
Synthesis Reference Rudney, Harry. Biosynthesis of b-hydroxy-b-methylglutaric acid. Journal of Biological Chemistry (1957), 227 363-77.
Melting Point (Experimental) 65-67 oC
Experimental Water Solubility Not Available Source: PhysProp
Predicted Water Solubility 1000 mg/mL at 25 oC [MEYLAN,WM et al. (1996)]; 384.0 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge -1
State Solid
Experimental LogP/Hydrophobicity Not Available Source: PhysProp
Predicted LogP/Hydrophobicity -0.02 [MEYLAN,WM & HOWARD,PH (1995)]; -0.12 [Predicted by ALOGPS]; -0.12 [Predicted by ALOGPS] 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 (Bruker)
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
  • Blood
  • Cerebrospinal Fluid
  • Urine
Tissue Location
Tissue References
Fibroblasts —
Concentrations (Normal)
Biofluid Blood
Value 4.0 (0.0 - 10.0) uM
Age Adult:>18 yrs old
Sex N/A
Patient information Normal
Comments Not Available
References
  • Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr;19(2):271-8. [PubMed Link Image]
Biofluid Blood
Value 9.5 (0.00-19.00) uM
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
Biofluid CSF
Value 4.0 +/- 2.0 uM
Age N/A
Sex Both
Patient information Normal
Comments Not Available
References
  • Wishart DS, Lewis MJ, Morrissey JA, Flegel MD, Jeroncic K, Xiong Y, Cheng D, Eisner R, Gautam B, Tzur D, Sawhney S, Bamforth F, Greiner R, Li L: The human cerebrospinal fluid metabolome. J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Aug 15;871(2):164-173. Epub 2008 May 8. [PubMed Link Image]
Biofluid Urine
Value 12.2 (0.1-43.2) 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 7.5 (5.1-23.1) 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 9.0 (3.1-17.4) umol/mmol creatinine
Age Adolescent:13-18 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 26.9 (9.1-66.4) umol/mmol creatinine
Age Infant:0-1 yr 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 2.0 (0.0-4.0) umol/mmol creatinine
Age Children:1-13 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 15.0 (5.0-26.0) umol/mmol creatinine
Age Children:1-13 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 50 uM
Age Adult:>18 yrs old
Sex Male
Patient information Normal
Comments Based on one measurement
References
  • Shaykhutdinov RA, MacInnis GD, Dowlatabadi R, Weljie AM, Vogel HJ. Quantitative analysis of metabolite concentrations in human urine samples using 13C{1H} NMR spectroscopy. Metabolomics. 2009
Biofluid Urine
Value 23.0 (0.0-46.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
Biofluid Urine
Value 23.0 (0.00-46.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
Biofluid Urine
Value 23.0 (0.0-46.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
Concentrations (Abnormal)
Biofluid Blood
Value 10.0 (10.0 - 20.0) uM
Age Adult:>18 yrs old
Sex Both
Condition 3-Methylglutaconic aciduria
Comments 3-Methylglutaconic aciduria type I
References
  • Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr;19(2):271-8. [PubMed Link Image]
Biofluid Blood
Value 88.0 (10.0-166.0) uM
Age Adult:>18 yrs old
Sex Both
Condition Biotinidase deficiency
Comments Not Available
References
Biofluid Urine
Value 6.0 +/- 2.0 umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Condition Lung Cancer
Comments Not Available
References
  • HMP experimental
Biofluid Urine
Value 2030.0 (60.0-4000.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Condition 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Comments Not Available
References
Biofluid Urine
Value 30350.0 (1700-59000.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Comments Not Available
References
Biofluid Urine
Value 200.0 (150.0-250.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Comments Not Available
References
Biofluid Urine
Value 275.0 (50.0-500.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Condition Biotinidase deficiency
Comments Not Available
References
Biofluid Urine
Value 275.00 (50.00-500.00) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Condition Glutaric acidemia type 2
Comments Not Available
References
Associated Disorders
Condition References
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
3-Methylglutaconic aciduria
  • Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr;19(2):271-8. [PubMed Link Image]
Biotinidase deficiency
Glutaric acidemia type 2
Lung Cancer
  • HMP experimental
OMIM ID
  • 246450 Link Image (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
  • 250950 Link Image (3-Methylglutaconic aciduria)
  • 253260 Link Image (Biotinidase deficiency)
  • 231680 Link Image (Glutaric acidemia type 2)
  • 211980 Link Image (Lung Cancer)
Pathways Not Available
General References
  1. Amberg A, Rosner E, Dekant W: Biotransformation and kinetics of excretion of tert-amyl-methyl ether in humans and rats after inhalation exposure. Toxicol Sci. 2000 Jun;55(2):274-83. [PubMed Link Image]
  2. Schurmann M, Engelbrecht V, Lohmeier K, Lenard HG, Wendel U, Gartner J: Cerebral metabolic changes in biotinidase deficiency. J Inherit Metab Dis. 1997 Nov;20(6):755-60. [PubMed Link Image]
  3. Boulat O, Gradwohl M, Matos V, Guignard JP, Bachmann C: Organic acids in the second morning urine in a healthy Swiss paediatric population. Clin Chem Lab Med. 2003 Dec;41(12):1642-58. [PubMed Link Image]
  4. Sealey WM, Teague AM, Stratton SL, Mock DM: Smoking accelerates biotin catabolism in women. Am J Clin Nutr. 2004 Oct;80(4):932-5. [PubMed Link Image]
  5. 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]
  6. Jakobs C, Sweetman L, Nyhan WL, Packman S: Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. J Inherit Metab Dis. 1984;7(1):15-20. [PubMed Link Image]
  7. Santer R, Muhle H, Suormala T, Baumgartner ER, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U: Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Mol Genet Metab. 2003 Jul;79(3):160-6. [PubMed Link Image]
  8. Baykal T, Gokcay GH, Ince Z, Dantas MF, Fowler B, Baumgartner MR, Demir F, Can G, Demirkol M: Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. J Inherit Metab Dis. 2005;28(2):229-33. [PubMed Link Image]
  9. Rodriguez JM, Ruiz-Sala P, Ugarte M, Penalva MA: Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. J Biol Chem. 2004 Feb 6;279(6):4578-87. Epub 2003 Nov 11. [PubMed Link Image]