You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Record Information
StatusDetected and Quantified
Creation Date2013-08-28 20:00:53 UTC
Update Date2020-10-09 21:09:39 UTC
Secondary Accession Numbers
  • HMDB61189
Metabolite Identification
Common Name3-Hydroxyisovalerylcarnitine
Description3-Hydroxyisovalerylcarnitine is structual derivative of 3-hydroxyisovaleric acid and carnitine. Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns (PMID: 18088573 ). Analysis of acylcarnitines by tandem mass spectrometry (MS/MS) has recently been used to screen newborns for organic acidemias and fatty acid oxidation defects (PMID: 7494654 , 9216448 , 11427446 , 12127323 , 14578311 ). These diseases cause the accumulation of acyl-CoA, which is esterified to acylcarnitine by carnitine acyltransferase. Acylcarnitine is then eliminated in the urine, thus acylcarnitine concentration serves as an excellent indicator for these diseases (PMID: 6361812 ). 3-Hydroxyisovalerylcarnitine (C5OH-I) is an indicator for diagnoses of multiple carboxylase deficiency (MCD), 3-methylcrotonyl-CoA carboxylase deficiency and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (PMID: 18088573 ), which are inborn errors of metabolism.
Chemical FormulaC12H23NO5
Average Molecular Weight261.318
Monoisotopic Molecular Weight261.157622845
IUPAC Name(3R)-3-[(3-hydroxy-3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate
Traditional Name(3R)-3-[(3-hydroxy-3-methylbutanoyl)oxy]-4-(trimethylammonio)butanoate
CAS Registry Number99159-87-2
InChI Identifier
Chemical Taxonomy
Description belongs to the class of organic compounds known as acyl carnitines. These are organic compounds containing a fatty acid with the carboxylic acid attached to carnitine through an ester bond.
KingdomOrganic compounds
Super ClassLipids and lipid-like molecules
ClassFatty Acyls
Sub ClassFatty acid esters
Direct ParentAcyl carnitines
Alternative Parents
  • Acyl-carnitine
  • Branched fatty acid
  • Hydroxy fatty acid
  • Dicarboxylic acid or derivatives
  • Tetraalkylammonium salt
  • Tertiary alcohol
  • Quaternary ammonium salt
  • Carboxylic acid ester
  • Carboxylic acid salt
  • Carboxylic acid derivative
  • Carboxylic acid
  • Organic nitrogen compound
  • Organonitrogen compound
  • Organooxygen compound
  • Organic zwitterion
  • Organic salt
  • Hydrocarbon derivative
  • Organic oxide
  • Organopnictogen compound
  • Carbonyl group
  • Organic oxygen compound
  • Amine
  • Alcohol
  • Aliphatic acyclic compound
Molecular FrameworkAliphatic acyclic compounds
External DescriptorsNot Available
Physiological effect

Health effect:


Route of exposure:


Biological location:


Naturally occurring process:


Biological role:

Physical Properties
StateNot Available
Experimental Properties
Melting PointNot AvailableNot Available
Boiling PointNot AvailableNot Available
Water SolubilityNot AvailableNot Available
LogPNot AvailableNot Available
Predicted Properties
Water Solubility0.28 g/LALOGPS
pKa (Strongest Acidic)4.21ChemAxon
pKa (Strongest Basic)-2.7ChemAxon
Physiological Charge0ChemAxon
Hydrogen Acceptor Count4ChemAxon
Hydrogen Donor Count1ChemAxon
Polar Surface Area86.66 ŲChemAxon
Rotatable Bond Count8ChemAxon
Refractivity88.1 m³·mol⁻¹ChemAxon
Polarizability27.34 ųChemAxon
Number of Rings0ChemAxon
Rule of FiveYesChemAxon
Ghose FilterNoChemAxon
Veber's RuleNoChemAxon
MDDR-like RuleNoChemAxon
Not Available
Biological Properties
Cellular LocationsNot Available
Biospecimen Locations
  • Blood
  • Urine
Tissue LocationsNot Available
Normal Concentrations
BloodDetected and Quantified0.51 uMAdult (>18 years old)FemaleNormal details
BloodDetected and Quantified0.45 +/- 0.18 uMChildren (1 - 13 years old)Not SpecifiedNormal details
BloodDetected and Quantified0.0000-0.400 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified<0.510 uMNot SpecifiedNot SpecifiedNormal details
BloodDetected and Quantified0 uMChildren (1 - 13 years old)BothNormal details
BloodDetected and Quantified0.17 (0.13-0.20) uMInfant (0-1 year old)BothNormal details
UrineDetected and Quantified0.42 umol/mmol creatinineChildren (1-13 years old)MaleNormal details
Abnormal Concentrations
BloodDetected and Quantified5.05 uMAdult (>18 years old)Female3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency details
BloodDetected and Quantified0.12-4.16 uMNewborn (0-30 days old)Not Specified3-Methylcrotonyl-CoA Carboxylase Deficiency details
BloodDetected and Quantified10100 +/- 4800 uMAdult (>18 years old)Both3-Methylcrotonyl-CoA Carboxylase Deficiency details
BloodDetected and Quantified4.81 +/- 0.47 uMChildren (1 - 13 years old)Not Specified3-hydroxy-3-methylglutaric aciduria details
BloodDetected and Quantified7.78 uMNewborn (0-30 days old)Male3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency details
BloodDetected and Quantified5.05 uMAdult (>18 years old)Female3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency details
BloodDetected and Quantified0.36 uMInfant (0-1 year old)FemaleMultiple carboxylase deficiency details
BloodDetected and Quantified3.56 uMChildren (1-13 years old)Femalemultiple carboxylase deficiency details
UrineDetected and Quantified52.2 +/- 14.7 umol/mmol creatinineAdult (>18 years old)Both3-Methylcrotonyl-CoA Carboxylase Deficiency details
UrineDetected and Quantified18.67 umol/mmol creatinineInfant (0-1 year old)FemaleMultiple carboxylase deficiency details
UrineDetected and Quantified80.88 umol/mmol creatinineChildren (1-13 years old)FemaleMultiple carboxylase deficiency details
Associated Disorders and Diseases
Disease References
Multiple carboxylase deficiency
  1. Maeda Y, Ito T, Ohmi H, Yokoi K, Nakajima Y, Ueta A, Kurono Y, Togari H, Sugiyama N: Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):154-9. Epub 2007 Dec 4. [PubMed:18088573 ]
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  1. Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. [PubMed:15505778 ]
  2. Dos Santos Mello M, Ribas GS, Wayhs CA, Hammerschmidt T, Guerreiro GB, Favenzani JL, Sitta A, de Moura Coelho D, Wajner M, Vargas CR: Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria. Mol Cell Biochem. 2015 Apr;402(1-2):149-55. doi: 10.1007/s11010-014-2322-x. Epub 2015 Jan 4. [PubMed:25557019 ]
  3. Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33. [PubMed:23705938 ]
  1. Koeberl DD, Millington DS, Smith WE, Weavil SD, Muenzer J, McCandless SE, Kishnani PS, McDonald MT, Chaing S, Boney A, Moore E, Frazier DM: Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis. 2003;26(1):25-35. [PubMed:12872837 ]
  2. Thomsen JA, Lund AM, Olesen JH, Mohr M, Rasmussen J: Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency? JIMD Rep. 2015;21:79-88. doi: 10.1007/8904_2014_393. Epub 2015 Mar 3. [PubMed:25732994 ]
Associated OMIM IDs
  • 246450 (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)
  • 210200 (3-Methyl-crotonyl-glycinuria)
DrugBank IDNot Available
Phenol Explorer Compound IDNot Available
FooDB IDNot Available
KNApSAcK IDNot Available
Chemspider IDNot Available
KEGG Compound IDNot Available
BioCyc IDNot Available
BiGG IDNot Available
Wikipedia LinkNot Available
METLIN IDNot Available
PubChem Compound53915061
PDB IDNot Available
ChEBI IDNot Available
Food Biomarker OntologyNot Available
MarkerDB IDMDB00029838
Synthesis ReferenceNot Available
Material Safety Data Sheet (MSDS)Not Available
General References
  1. Nakanishi T, Shimizu A: Identification of 3-hydroxyisovalerylcarnitine in the urine of a patient with multiple carboxylase deficiency. Ann Clin Biochem. 1993 May;30 ( Pt 3):318-20. [PubMed:8517616 ]
  2. van Hove JL, Rutledge SL, Nada MA, Kahler SG, Millington DS: 3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 1995;18(5):592-601. [PubMed:8598640 ]
  3. Wei J, Fan S, Li L, Xiang X, Zhao R, Wang Z: [Determination of 3-hydroxyisovaleryl carnitine in plasma and urinary excretion by ultra-performance liquid chromatography-tandem mass spectrometry]. Wei Sheng Yan Jiu. 2016 May;45(3):470-4. [PubMed:27459814 ]
  4. Budner M, Surowiec Z, Fudalej P, Hozyasz KK: Whole-blood 3-hydroxyisovalerylcarnitine as a risk factor for orofacial clefts. Arch Oral Biol. 2013 May;58(5):459-61. doi: 10.1016/j.archoralbio.2012.10.013. Epub 2013 Feb 5. [PubMed:23395542 ]
  5. Maeda Y, Ito T, Ohmi H, Yokoi K, Nakajima Y, Ueta A, Kurono Y, Togari H, Sugiyama N: Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency. J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):154-9. Epub 2007 Dec 4. [PubMed:18088573 ]
  6. Rashed MS, Ozand PT, Bucknall MP, Little D: Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res. 1995 Sep;38(3):324-31. [PubMed:7494654 ]
  7. Rashed MS, Bucknall MP, Little D, Awad A, Jacob M, Alamoudi M, Alwattar M, Ozand PT: Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem. 1997 Jul;43(7):1129-41. [PubMed:9216448 ]
  8. Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW: Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem. 2001;47(7):1166-82. [PubMed:11427446 ]
  9. Shigematsu Y, Hirano S, Hata I, Tanaka Y, Sudo M, Sakura N, Tajima T, Yamaguchi S: Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Aug 25;776(1):39-48. [PubMed:12127323 ]
  10. Chace DH, Kalas TA, Naylor EW: Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003 Nov;49(11):1797-817. [PubMed:14578311 ]
  11. Bremer J: Carnitine--metabolism and functions. Physiol Rev. 1983 Oct;63(4):1420-80. [PubMed:6361812 ]
  12. Simons K, Toomre D: Lipid rafts and signal transduction. Nat Rev Mol Cell Biol. 2000 Oct;1(1):31-9. [PubMed:11413487 ]
  13. Watson AD: Thematic review series: systems biology approaches to metabolic and cardiovascular disorders. Lipidomics: a global approach to lipid analysis in biological systems. J Lipid Res. 2006 Oct;47(10):2101-11. Epub 2006 Aug 10. [PubMed:16902246 ]
  14. Sethi JK, Vidal-Puig AJ: Thematic review series: adipocyte biology. Adipose tissue function and plasticity orchestrate nutritional adaptation. J Lipid Res. 2007 Jun;48(6):1253-62. Epub 2007 Mar 20. [PubMed:17374880 ]
  15. Lingwood D, Simons K: Lipid rafts as a membrane-organizing principle. Science. 2010 Jan 1;327(5961):46-50. doi: 10.1126/science.1174621. [PubMed:20044567 ]
  16. Gunstone, Frank D., John L. Harwood, and Albert J. Dijkstra (2007). The lipid handbook with CD-ROM. CRC Press.