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Record Information |
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Version | 4.0 |
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Status | Detected and Quantified |
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Creation Date | 2005-11-16 15:48:42 UTC |
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Update Date | 2019-01-11 19:14:56 UTC |
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HMDB ID | HMDB0000688 |
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Secondary Accession Numbers | |
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Metabolite Identification |
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Common Name | Isovalerylcarnitine |
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Description | Isovalerylcarnitine is the phenotypic abnormality in isovaleric acidemia (OMIM 243500 ) resulting from an accumulation of isovaleric acid, which is toxic to the central nervous system. Isovaleric acidemia is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (EC 1.3.99.10) resulting in the accumulation of derivatives of isovaleryl-CoA. It was the first organic acidemia recognized in humans and can cause significant morbidity and mortality. Early diagnosis and treatment with a protein restricted diet and supplementation with carnitine and glycine are effective in promoting normal development in severely affected individuals. An alternative pathway through glycine-N-acylase (EC 2.3.1.13) allows detoxification by producing isovalerylglycine, which is excreted. Thus, isovalerylcarnitine and isovalerylglycine are the hallmarks of this disorder in plasma and urine, respectively, and are elevated regardless of a patient's metabolic condition (PMID: 16602101 ). Moreover, isovalerylcarnitine is found to be associated with celiac disease and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), which are also inborn errors of metabolism. |
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Structure | |
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Synonyms | Value | Source |
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3-Methylbutyrylcarnitine | ChEBI | Isovaleryl L-carnitine | HMDB | 3-Methylbutyrylcarnitine, (+-)-isomer | MeSH |
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Chemical Formula | C12H23NO4 |
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Average Molecular Weight | 245.3153 |
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Monoisotopic Molecular Weight | 245.162708229 |
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IUPAC Name | 3-[(3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate |
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Traditional Name | isovalerylcarnitine |
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CAS Registry Number | 31023-24-2 |
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SMILES | CC(C)CC(=O)OC(CC([O-])=O)C[N+](C)(C)C |
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InChI Identifier | InChI=1S/C12H23NO4/c1-9(2)6-12(16)17-10(7-11(14)15)8-13(3,4)5/h9-10H,6-8H2,1-5H3 |
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InChI Key | IGQBPDJNUXPEMT-UHFFFAOYSA-N |
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Chemical Taxonomy |
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Description | This compound 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. |
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Kingdom | Organic compounds |
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Super Class | Lipids and lipid-like molecules |
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Class | Fatty Acyls |
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Sub Class | Fatty acid esters |
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Direct Parent | Acyl carnitines |
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Alternative Parents | |
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Substituents | - Acyl-carnitine
- Branched fatty acid
- Dicarboxylic acid or derivatives
- Tetraalkylammonium salt
- Quaternary ammonium salt
- Carboxylic acid ester
- Carboxylic acid salt
- Carboxylic acid derivative
- Carboxylic acid
- Organonitrogen compound
- Hydrocarbon derivative
- Organic oxide
- Organopnictogen compound
- Organic nitrogen compound
- Carbonyl group
- Organic oxygen compound
- Amine
- Organooxygen compound
- Organic salt
- Aliphatic acyclic compound
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Molecular Framework | Aliphatic acyclic compounds |
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External Descriptors | |
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Ontology |
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Physiological effect | Health effect: |
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Disposition | Route of exposure: Source: Biological location: |
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Process | Naturally occurring process: |
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Role | Industrial application: Biological role: |
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Physical Properties |
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State | Solid |
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Experimental Properties | Property | Value | Reference |
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Melting Point | Not Available | Not Available | Boiling Point | Not Available | Not Available | Water Solubility | Not Available | Not Available | LogP | Not Available | Not Available |
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Predicted Properties | |
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Spectra | |
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Biological Properties |
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Cellular Locations | |
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Biospecimen Locations | |
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Tissue Locations | Not Available |
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Pathways | |
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Normal Concentrations |
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Blood | Detected and Quantified | <0.400 uM | Not Specified | Not Specified | Normal | | details | Blood | Detected and Quantified | 0.138 +/- 0.010 uM | Adult (>18 years old) | Both | Normal | | details | Blood | Detected and Quantified | <0.600 uM | Not Specified | Not Specified | Normal | | details | Blood | Detected and Quantified | 0.46 uM | Newborn (0-30 days old) | Not Specified | Normal | | details | Blood | Detected and Quantified | <0.110 uM | Not Specified | Not Specified | Normal | | details | Blood | Detected and Quantified | 0.049 (0.032-0.082) uM | Children (1-13 years old) | Both | Normal | | details | Saliva | Detected and Quantified | 0.073 +/- 0.035 uM | Adult (>18 years old) | Both | Normal | | details | Urine | Detected and Quantified | <3.0 umol/mmol creatinine | Newborn (0-30 days old) | Not Specified | Normal | | details |
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Abnormal Concentrations |
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Blood | Detected and Quantified | 0.111 +/- 0.010 uM | Adult (>18 years old) | Both | Celiac disease | | details | Blood | Detected and Quantified | 27.300-48.200 uM | Not Specified | Not Specified | Isovaleric acidemia | | details | Blood | Detected and Quantified | 0.052 (0.022-0.068) uM | Adult (>18 years old) | Both | Very long-chain acyl-CoA dehydrogenase deficiency (vLCAD) | | details |
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Associated Disorders and Diseases |
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Disease References | Celiac disease |
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- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed:16425363 ]
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
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- Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed:9034211 ]
| Isovaleric acidemia |
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- Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J: Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. [PubMed:12837870 ]
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Associated OMIM IDs | - 212750 (Celiac disease)
- 201475 (Very Long Chain Acyl-CoA Dehydrogenase Deficiency)
- 243500 (Isovaleric acidemia)
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External Links |
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DrugBank ID | Not Available |
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Phenol Explorer Compound ID | Not Available |
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FoodDB ID | FDB022183 |
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KNApSAcK ID | Not Available |
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Chemspider ID | 4932271 |
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KEGG Compound ID | Not Available |
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BioCyc ID | Not Available |
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BiGG ID | Not Available |
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Wikipedia Link | Not Available |
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METLIN ID | 5657 |
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PubChem Compound | 6426851 |
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PDB ID | Not Available |
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ChEBI ID | 73025 |
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References |
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Synthesis Reference | Nakanishi, Toyofumi; Shimizu, Akira; Arimoto, Masao; Kanai, Michiko. Synthesis of acylcarnitines for differential diagnosis of metabolic disorders. Nippon Iyo Masu Supekutoru Gakkai Koenshu (1993), 18 129-32. |
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Material Safety Data Sheet (MSDS) | Not Available |
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General References | - Salamino F, Di Lisa F, Burlina AB, Menabo R, Barbato R, De Tullio R, Siliprandi N: Involvement of erythrocyte calpain in glycine- and carnitine-treated isovaleric acidemia. Pediatr Res. 1994 Aug;36(2):182-6. [PubMed:7970932 ]
- Fries MH, Rinaldo P, Schmidt-Sommerfeld E, Jurecki E, Packman S: Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. J Pediatr. 1996 Sep;129(3):449-52. [PubMed:8804338 ]
- Silva MF, Selhorst J, Overmars H, van Gennip AH, Maya M, Wanders RJ, de Almeida IT, Duran M: Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS. Clin Biochem. 2001 Nov;34(8):635-8. [PubMed:11849623 ]
- Vockley J, Ensenauer R: Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. [PubMed:16602101 ]
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