1.0 2011-09-21 00:09:45 UTC 2019-11-26 03:21:01 UTC FDB022183 Isovalerylcarnitine 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) [HMDB] 3-Methylbutyrylcarnitine Isovaleryl L-carnitine Isovalerylcarnitine C12H23NO4 245.3153 245.162708229 3-[(3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate isovalerylcarnitine 31023-24-2 CC(C)CC(=O)OC(CC([O-])=O)C[N+](C)(C)C 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 IGQBPDJNUXPEMT-UHFFFAOYSA-N 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. Acyl carnitines Organic compounds Lipids and lipid-like molecules Fatty Acyls Fatty acid esters Aliphatic acyclic compounds Amines Branched fatty acids Carbonyl compounds Carboxylic acid esters Carboxylic acid salts Carboxylic acids Dicarboxylic acids and derivatives Hydrocarbon derivatives Organic oxides Organic salts Organopnictogen compounds Tetraalkylammonium salts Acyl-carnitine Aliphatic acyclic compound Amine Branched fatty acid Carbonyl group Carboxylic acid Carboxylic acid derivative Carboxylic acid ester Carboxylic acid salt Dicarboxylic acid or derivatives Hydrocarbon derivative Organic nitrogen compound Organic oxide Organic oxygen compound Organic salt Organonitrogen compound Organooxygen compound Organopnictogen compound Quaternary ammonium salt Tetraalkylammonium salt C5-acylcarnitine Solid logp -1.95 ALOGPS logs -4.08 ALOGPS solubility 2.50e-02 g/l ALOGPS logp -3 ChemAxon pka_strongest_acidic 4.34 ChemAxon pka_strongest_basic -7.1 ChemAxon iupac 3-[(3-methylbutanoyl)oxy]-4-(trimethylazaniumyl)butanoate ChemAxon average_mass 245.3153 ChemAxon mono_mass 245.162708229 ChemAxon smiles CC(C)CC(=O)OC(CC([O-])=O)C[N+](C)(C)C ChemAxon formula C12H23NO4 ChemAxon inchi 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 ChemAxon inchikey IGQBPDJNUXPEMT-UHFFFAOYSA-N ChemAxon polar_surface_area 66.43 ChemAxon refractivity 86.41 ChemAxon polarizability 26.69 ChemAxon rotatable_bond_count 8 ChemAxon acceptor_count 3 ChemAxon donor_count 0 ChemAxon physiological_charge 0 ChemAxon formal_charge 0 ChemAxon Specdb::NmrOneD 1478 Specdb::NmrOneD 144850 Specdb::NmrOneD 144851 Specdb::NmrOneD 144852 Specdb::NmrOneD 144853 Specdb::NmrOneD 144854 Specdb::NmrOneD 144855 Specdb::NmrOneD 144856 Specdb::NmrOneD 144857 Specdb::NmrOneD 144858 Specdb::NmrOneD 144859 Specdb::NmrOneD 144860 Specdb::NmrOneD 144861 Specdb::NmrOneD 144862 Specdb::NmrOneD 144863 Specdb::NmrOneD 144864 Specdb::NmrOneD 144865 Specdb::NmrOneD 144866 Specdb::NmrOneD 144867 Specdb::NmrOneD 144868 Specdb::NmrOneD 144869 Specdb::NmrTwoD 1424 Specdb::MsMs 954 Specdb::MsMs 2364685 Specdb::MsMs 2364686 Specdb::MsMs 2364687 Specdb::CMs 108244 Specdb::CMs 120771 Specdb::CMs 146720 HMDB00688 #<Reference:0x000055ce31de4f68> #<Reference:0x000055ce31de4d38> #<Reference:0x000055ce31de4b08> #<Reference:0x000055ce31de4860> Anatidae Type 1 specific Anatidae 8830 Beefalo Type 1 specific Bos taurus X Bison bison 297284 Bison Type 1 specific Bison bison 9901 Buffalo Type 1 specific Bubalus bubalis 89462 Cattle (Beef, Veal) Type 1 specific Bos taurus 9913 Chicken Type 1 specific Gallus gallus 9031 Columbidae (Dove, Pigeon) Type 1 specific Columbidae 8930 Deer Type 1 specific Cervidae 9850 Domestic goat Type 1 specific Capra aegagrus hircus 9925 Domestic pig Type 1 specific Sus scrofa domestica 9825 Elk Type 1 specific Cervus canadensis 1574408 Emu Type 1 specific Dromaius novaehollandiae 8790 European rabbit Type 1 specific Oryctolagus 9984 Greylag goose Type 1 specific Anser anser 8843 Guinea hen Type 1 specific Numida meleagris 8996 Horse Type 1 specific Equus caballus 9796 Mallard duck Type 1 specific Anas platyrhynchos 8839 Milk (Cow) Type 2 specific 3.6 4.5 2.8 uM Mountain hare Type 1 specific Lepus timidus 62621 Mule deer Type 1 specific Odocoileus 9871 Ostrich Type 1 specific Struthio camelus 8801 Pheasant Type 1 specific Phasianus colchicus 9054 Quail Type 1 specific Phasianidae 9005 Rabbit Type 1 specific Leporidae 9979 Rock ptarmigan Type 1 specific Lagopus muta 64668 Sheep (Mutton, Lamb) Type 1 specific Ovis aries 9940 Squab Type 1 specific Columba 8931 Turkey Type 1 specific Meleagris gallopavo 9103 Velvet duck Type 1 specific Melanitta fusca 371864 Wild boar Type 1 specific Sus scrofa 9823