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Human Metabolome Database Version 3.5

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Showing metabocard for 3-Hydroxyisovaleric acid (HMDB00754)

Record Information
Version 3.5
Creation Date 2005-11-16 08:48:42 -0700
Update Date 2013-05-29 13:28:57 -0600
HMDB ID HMDB00754
Secondary Accession Numbers None
Metabolite Identification
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 Link_out, 9523856 Link_out, 15447901 Link_out, 9176832 Link_out)(OMIM: 210210 Link_out, 253270 Link_out, 600529 Link_out, 253260 Link_out, 246450 Link_out, 210200 Link_out, 238331 Link_out).
Structure Thumb
Download: MOL | SDF | SMILES | InChI
Display: 2D Structure | 3D Structure
Synonyms
  1. 3-Hydroxy-3-methyl-Butanoate
  2. 3-Hydroxy-3-methyl-Butanoic acid
  3. 3-Hydroxy-3-methyl-Butyric acid
  4. 3-Hydroxy-3-methylbutanoate
  5. 3-Hydroxy-3-methylbutanoic acid
  6. 3-Hydroxy-3-methylbutyrate
  7. 3-Hydroxy-3-methylbutyric acid
  8. 3-Hydroxy-isovaleric acid
  9. 3-Hydroxyisovalerate
  10. 3-Hydroxyisovaleric acid
  11. 3-OH-isovaleric acid
  12. B-Hydroxy-b-methylbutyrate
  13. B-Hydroxy-b-methylbutyric acid
  14. B-Hydroxyisovalerate
  15. B-Hydroxyisovaleric acid
  16. beta-Hydroxy-beta-methylbutyrate
  17. beta-Hydroxy-beta-methylbutyric acid
  18. beta-Hydroxyisovalerate
  19. beta-Hydroxyisovaleric acid
Chemical Formula C5H10O3
Average Molecular Weight 118.1311
Monoisotopic Molecular Weight 118.062994186
IUPAC Name 3-hydroxy-3-methylbutanoic acid
Traditional IUPAC Name 3-hydroxyisovaleric acid
CAS Registry Number 625-08-1
SMILES CC(C)(O)CC(O)=O
InChI Identifier InChI=1S/C5H10O3/c1-5(2,8)3-4(6)7/h8H,3H2,1-2H3,(H,6,7)
InChI Key AXFYFNCPONWUHW-UHFFFAOYSA-N
Chemical Taxonomy
Kingdom Organic Compounds
Super Class Organic Acids and Derivatives
Class Hydroxy Acids and Derivatives
Sub Class Beta Hydroxy Acids and Derivatives
Other Descriptors
  • Aliphatic Acyclic Compounds
  • Branched Fatty Acids
  • Hydroxy fatty acids(Lipidmaps)
  • Organic Compounds
  • branched-chain saturated fatty acid(ChEBI)
  • hydroxy fatty acid(ChEBI)
  • short-chain fatty acid(ChEBI)
  • straight-chain saturated fatty acid(ChEBI)
Substituents
  • Carboxylic Acid
  • Short Chain Hydroxy Acid
  • Tertiary Alcohol
Direct Parent Beta Hydroxy Acids and Derivatives
Ontology
Status Detected and Quantified
Origin
  • Endogenous
Biofunction Not Available
Application Not Available
Cellular locations
  • Cytoplasm (predicted from logP)
Physical Properties
State Solid
Experimental Properties
Property Value Reference
Melting Point 65 - 67 °C 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 384 g/L ALOGPS
LogP -0.12 ALOGPS
LogP -0.11 ChemAxon
LogS 0.51 ALOGPS
pKa (strongest acidic) 4.55 ChemAxon
pKa (strongest basic) -2.7 ChemAxon
Hydrogen Acceptor Count 3 ChemAxon
Hydrogen Donor Count 2 ChemAxon
Polar Surface Area 57.53 A2 ChemAxon
Rotatable Bond Count 2 ChemAxon
Refractivity 28.1 ChemAxon
Polarizability 11.75 ChemAxon
Formal Charge 0 ChemAxon
Physiological Charge -1 ChemAxon
Spectra
1H NMR Spectrum
MS/MS Spectrum Quattro_QQQ 10
MS/MS Spectrum Quattro_QQQ 25
MS/MS Spectrum Quattro_QQQ 40
MS/MS Spectrum GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies )
[1H,13C] 2D NMR Spectrum
Biological Properties
Cellular Locations
  • Cytoplasm (predicted from logP)
Biofluid Locations
  • Blood
  • Cerebrospinal Fluid (CSF)
  • Urine
Tissue Location
  • Fibroblasts
Pathways Not Available
Normal Concentrations
Biofluid Status Value Age Sex Condition Reference
Blood Detected and Quantified
4.0 (0.0 - 10.0) uM Adult (>18 years old) Not Specified Normal
Blood Detected and Quantified
9.5 (0.00-19.00) uM Adult (>18 years old) Both Normal
Cerebrospinal Fluid (CSF) Detected and Quantified
4.0 +/- 2.0 uM Not Specified Both Normal
Urine Detected but not Quantified
Not Applicable Adult (>18 years old) Male Normal
Urine Detected and Quantified
12.2 (0.1-43.2) umol/mmol creatinine Newborn (0-30 days old) Both Normal
Urine Detected and Quantified
7.5 (5.1-23.1) umol/mmol creatinine Children (1-13 year old) Both Normal
Urine Detected and Quantified
9.0 (3.1-17.4) umol/mmol creatinine Adolescent (13-18 years old) Both Normal
Urine Detected and Quantified
3.56 umol/mmol creatinine Adult (>18 years old) Male Comment Normal
  • Shaykhutdino...
Urine Detected but not Quantified
Not Applicable Adult (>18 years old) Both Comment Normal
  • Bouatra, S. ...
Urine Detected and Quantified
2.0 (0.0-4.0) umol/mmol creatinine Children (1-13 year old) Both Normal
  • Geigy Scient...
Urine Detected and Quantified
15.0 (5.0-26.0) umol/mmol creatinine Children (1-13 year old) Both Normal
  • Geigy Scient...
Urine Detected but not Quantified
Not Applicable Adult (>18 years old) Both Normal
Urine Detected and Quantified
11 (6.9-25) umol/mmol creatinine Adult (>18 years old) Both Normal
Urine Detected and Quantified
26.9 (9.1-66.4) umol/mmol creatinine Infant (0-1 year old) Both Normal
Urine Detected and Quantified
7.4 (4.1-17.2) umol/mmol creatinine Adult (>18 years old) Both Comment Normal
  • Bouatra, S. ...
Urine Detected and Quantified
6.8 (3.2-21.8) umol/mmol creatinine Adult (>18 years old) Both Comment Normal
  • Bouatra, S. ...
Urine Detected and Quantified
10.50 (7.02 – 14.38) umol/mmol creatinine Adult (>18 years old) Both Normal
  • Lorena Ivona...
Urine Detected and Quantified
8.5 +/- 3.2 umol/mmol creatinine Adult (>18 years old) Both Normal
Urine Detected and Quantified
23.0 (0.0-46.0) umol/mmol creatinine Adult (>18 years old) Both Normal
Abnormal Concentrations
Biofluid Status Value Age Sex Condition Reference
Blood Detected and Quantified 88.0 (10.0-166.0) uM Adult (>18 years old) Both Biotinidase deficiency
Blood Detected and Quantified 10.0 (10.0 - 20.0) uM Adult (>18 years old) Both Comment 3-Methylglutaconic aciduria
Urine Detected and Quantified 200.0 (150.0-250.0) umol/mmol creatinine Adult (>18 years old) Both 3-Methylglutaconic Aciduria (TYPE I)
Urine Detected and Quantified 275.0 (50.0-500.0) umol/mmol creatinine Adult (>18 years old) Both Biotinidase deficiency
Urine Detected but not Quantified Not Applicable Adult (>18 years old) Both Autosomal dominant polycystic kidney disease
Urine Detected and Quantified 6.0 +/- 2.0 umol/mmol creatinine Adult (>18 years old) Both Lung cancer
Urine Detected and Quantified 275.00 (50.00-500.00) umol/mmol creatinine Adult (>18 years old) Both Glutaric Aciduria II
Urine Detected and Quantified 10.78 (4.94 – 21.07) umol/mmol creatinine Adult (>18 years old) Both Type 1 diabetes Mellitus
  • Lorena Ivona...
Urine Detected and Quantified 2030.0 (60.0-4000.0) umol/mmol creatinine Adult (>18 years old) Both 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Urine Detected and Quantified 30350.0 (1700-59000.0) umol/mmol creatinine Adult (>18 years old) Both 3-Methyl-Crotonyl-Glycinuria
Associated Disorders and Diseases
Disease References
Lung Cancer
  • Wishart DS, Knox C, Guo AC, Eisner R, Young N, Gautam B, Hau DD, Psychogios N, Dong E, Bouatra S, Mandal R, Sinelnikov I, Xia J, Jia L, Cruz JA, Lim E, Sobsey CA, Shrivastava S, Huang P, Liu P, Fang L, Peng J, Fradette R, Cheng D, Tzur D, Clements M, Lewis A, De Souza A, Zuniga A, Dawe M, Xiong Y, Clive D, Greiner R, Nazyrova A, Shaykhutdinov R, Li L, Vogel HJ, Forsythe I: HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2008 Oct 25. Pubmed: 18953024 Link_out
    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: 16541463 Link_out
      3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
          3-methyl-crotonyl-glycinuria
              3-Methylglutaconic aciduria type I
                  Biotinidase deficiency
                      Glutaric acidemia type 2
                          Associated OMIM IDs
                          • 211980 Link_out (Lung Cancer)
                          • 250950 Link_out (3-Methylglutaconic aciduria)
                          • 246450 Link_out (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
                          • 210200 Link_out (3-methyl-crotonyl-glycinuria)
                          • 250950 Link_out (3-Methylglutaconic aciduria type I)
                          • 253260 Link_out (Biotinidase deficiency)
                          • 231680 Link_out (Glutaric acidemia type 2)
                          DrugBank ID Not Available
                          DrugBank Metabolite ID Not Available
                          Phenol Explorer Compound ID Not Available
                          Phenol Explorer Metabolite ID Not Available
                          FoodDB ID FDB022225
                          KNApSAcK ID Not Available
                          Chemspider ID 62571 Link_out
                          KEGG Compound ID Not Available
                          BioCyc ID Not Available
                          BiGG ID Not Available
                          Wikipedia Link Not Available
                          NuGOwiki Link HMDB00754 Link_out
                          Metagene Link HMDB00754 Link_out
                          METLIN ID 5722 Link_out
                          PubChem Compound 69362 Link_out
                          PDB ID Not Available
                          ChEBI ID 37084 Link_out
                          References
                          Synthesis Reference Rudney, Harry. Biosynthesis of b-hydroxy-b-methylglutaric acid. Journal of Biological Chemistry (1957), 227 363-77.
                          Material Safety Data Sheet (MSDS) Download (PDF)
                          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: 10828258 Link_out
                          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: 9427142 Link_out
                          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: 14708889 Link_out
                          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: 15447901 Link_out
                          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: 8087979 Link_out
                          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: 6429435 Link_out
                          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: 12855220 Link_out
                          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: 15877210 Link_out
                          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: 14612443 Link_out
                          10. Stratton SL, Bogusiewicz A, Mock MM, Mock NI, Wells AM, Mock DM: Lymphocyte propionyl-CoA carboxylase and its activation by biotin are sensitive indicators of marginal biotin deficiency in humans. Am J Clin Nutr. 2006 Aug;84(2):384-8. Pubmed: 16895887 Link_out
                          11. Mock DM, Mock NI, Nelson RP, Lombard KA: Disturbances in biotin metabolism in children undergoing long-term anticonvulsant therapy. J Pediatr Gastroenterol Nutr. 1998 Mar;26(3):245-50. Pubmed: 9523856 Link_out
                          12. Mock DM, Stadler DD: Conflicting indicators of biotin status from a cross-sectional study of normal pregnancy. J Am Coll Nutr. 1997 Jun;16(3):252-7. Pubmed: 9176832 Link_out