2-Methylbutyroylcarnitine
Usually not detected in normal individuals, the elevation of 2-methylbutyrylcarnitine suggests a deficiency of a dehydrogenase specific for isobutyryl-CoA, important in the differential diagnosis of Branched Chain Organic Acidurias by Analysis of Urinary Organic Acids and Acylcarnitines in Plasma or Dried Blood Spots (The Metabolic and Molecliar Bases of Inherited Disease, Chapter 93).
MOLSDF3D-SDFPDBSMILESInChI View 3D Structure
Structure for HMDB00378 (2-Methylbutyroylcarnitine)
C12H23NO4
245.3153
245.162708229
3-[(2-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate
2-methylbutyroylcarnitine
31023-25-3
CCC(C)C(=O)OC(CC([O-])=O)C[N+](C)(C)C
InChI=1S/C12H23NO4/c1-6-9(2)12(16)17-10(7-11(14)15)8-13(3,4)5/h9-10H,6-8H2,1-5H3
IHCPDBBYTYJYIL-UHFFFAOYSA-N
This compound belongs to the class of chemical entities known as acyl carnitines. These are organic compounds containing a fatty acid with the carboxylic acid attached to carnitine through an ester bond.
Chemical entities
Organic compounds
Lipids and lipid-like moleclies
Fatty Acyls
Acyl carnitines
Aliphatic acyclic compounds
Detected but not Quantified
Solid
LC-MS/MS Spectrum – Quattro_QQQ 10V, Positive (Annotated)splash10-000j-9470000000-b8dda6860bb724ab79a4View in MoNA
LC-MS/MS Spectrum – Quattro_QQQ 25V, Positive (Annotated)splash10-000i-9000000000-48dbfad44af00725715cView in MoNA
LC-MS/MS Spectrum – Quattro_QQQ 40V, Positive (Annotated)splash10-000i-9000000000-5b6022070c8a2794e703View in MoNA
1H NMR SpectrumNot Available
[1H,13C] 2D NMR SpectrumNot Available
Not Available
Not Available
None
None
Not Available
Not Available
Not Available
Not Available
FDB021996
Not Available
4932320
Not Available
Not Available
Not Available
Not Available
HMDB00378
HMDB00378
5367
6426901
Not Available
Not Available
- Kidouchi K, Niwa T, Nohara D, Asai K, Sugiyama N, Morishita H, Kobayashi M, Wada Y: Urinary acylcarnitines in a patient with neonatal multiple acyl-CoA dehydrogenation deficiency, quantified by a carboxylic acid analyzer with a reversed-phase column. Clin Chim Acta. 1988 Apr 29;173(3):263-72. [PubMed:3383426 ]
- 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 ]
- Abdenur JE, Chamoles NA, Guinle AE, Schenone AB, Fuertes AN: Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis. 1998 Aug;21(6):624-30. [PubMed:9762597 ]
- 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 ]
- Millington DS, Roe CR, Maltby DA, Inoue F: Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia. J Pediatr. 1987 Jan;110(1):56-60. [PubMed:3794887 ]
- Minkler PE, Ingalls ST, Hoppel CL: High-performance liquid chromatographic separation of acylcarnitines following derivatization with 4-bromophenacyl trifluoromethanesulfonate. Anal Biochem. 1990 Feb 15;185(1):29-35. [PubMed:2344045 ]
- Chalmers RA, Roe CR, Stacey TE, Hoppel CL: Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatr Res. 1984 Dec;18(12):1325-8. [PubMed:6441143 ]
- Roe CR, Millington DS, Maltby DA, Kahler SG, Bohan TP: L-carnitine therapy in isovaleric acidemia. J Clin Invest. 1984 Dec;74(6):2290-5. [PubMed:6549017 ]
- Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L: Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab. 1998 Dec;65(4):264-71. [PubMed:9889013 ]
- Sakuma T, Sugiyama N, Ichiki T, Kobayashi M, Wada Y, Nohara D: Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2. Prenat Diagn. 1991 Feb;11(2):77-82. [PubMed:2062823 ]
- 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 ]
- Pontremoli S, Melloni E, Michetti M, Sparatore B, Salamino F, Siliprandi N, Horecker BL: Isovalerylcarnitine is a specific activator of calpain of human neutrophils. Biochem Biophys Res Commun. 1987 Nov 13;148(3):1189-95. [PubMed:2825678 ]
- Ferrara F, Bertelli A, Falchi M: Evaluation of carnitine, acetylcarnitine and isovalerylcarnitine on immune function and apoptosis. Drugs Exp Clin Res. 2005;31(3):109-14. [PubMed:16033249 ]
- Bene J, Komlosi K, Havasi V, Talian G, Gasztonyi B, Horvath K, Mozsik G, Hunyady B, Melegh B, Figler M: Changes of plasma fasting carnitine ester profile in patients with ulcerative colitis. World J Gastroenterol. 2006 Jan 7;12(1):110-3. [PubMed:16440427 ]
- Fontaine M, Briand G, Vallee L, Ricart G, Degand P, Divry P, Vianey-Saban C, Vamecq J: Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation. Clin Chim Acta. 1996 Aug 30;252(2):109-22. [PubMed:8853559 ]
- Shigematsu Y, Kikawa Y, Sudo M, Kanaoka H, Fujioka M, Dan M: Prenatal diagnosis of isovaleric acidemia by fast atom bombardment and tandem mass spectrometry. Clin Chim Acta. 1991 Dec 16;203(2-3):369-74. [PubMed:1777996 ]