Chemical Formula: C12H23NO4

Chemical Formula C12H23NO4

Found 59 metabolite its formula value is C12H23NO4

Isovalerylcarnitine

3-Methylbutyrylcarnitine, (+-)-isomer

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 patients 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. 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 patients metabolic condition. (PMID: 16602101) [HMDB] Isovalerylcarnitine is a product of the catabolism of L-leucine. Isovalerylcarnitine is also a selective and reversible calpain activator that induces apoptosis[1][2][3].

2-Methylbutyroylcarnitine

L-2-Methylbutyrate (3-carboxy-2-hydroxypropyl)trimethyl-hydroxide ammonium inner salt

C12H23NO4 (245.1626998)

2-Methylbutyroylcarnitine is an acylcarnitine. More specifically, it is an 2-methylbutanoic acid ester of carnitine. Acylcarnitines were first discovered more than 70 year ago (PMID: 13825279). It is believed that there are more than 1000 types of acylcarnitines in the human body. The general role of acylcarnitines is to transport acyl-groups (organic acids and fatty acids) from the cytoplasm into the mitochondria so that they can be broken down to produce energy. This process is known as beta-oxidation. According to a recent review [Dambrova et al. 2021, Physiological Reviews], acylcarnitines (ACs) can be classified into 9 different categories depending on the type and size of their acyl-group: 1) short-chain ACs; 2) medium-chain ACs; 3) long-chain ACs; 4) very long-chain ACs; 5) hydroxy ACs; 6) branched chain ACs; 7) unsaturated ACs; 8) dicarboxylic ACs and 9) miscellaneous ACs. Short-chain ACs have acyl-groups with two to five carbons (C2-C5), medium-chain ACs have acyl-groups with six to thirteen carbons (C6-C13), long-chain ACs have acyl-groups with fourteen to twenty once carbons (C14-C21) and very long-chain ACs have acyl groups with more than 22 carbons. 2-Methylbutyroylcarnitine is therefore classified as a short chain AC. As a short-chain acylcarnitine 2-methylbutyroylcarnitine is a member of the most abundant group of carnitines in the body, comprising more than 50\\% of all acylcarnitines quantified in tissues and biofluids (PMID: 31920980). Some short-chain carnitines have been studied as supplements or treatments for a number of diseases, including neurological disorders and inborn errors of metabolism. In particular 2-methylbutyroylcarnitine is elevated in the blood or plasma of individuals with exudative age-related macular degeneration (PMID: 32120889), type 2 Diabetes Mellitus (PMID: 31782507, PMID: 20111019), obesity (PMID: 20111019), acute cerebral infarction (PMID: 29265114), diastolic heart failure (PMID: 26010610), systolic heart failure (PMID: 26010610). It is also decreased in the blood or plasma of individuals with pregnancy (PMID: 24704061 - in serum of pregnant women with fetus with CHD). Carnitine acetyltransferase (CrAT, EC:2.3.1.7) is responsible for the synthesis of all short-chain and short branched-chain acylcarnitines (PMID: 23485643). The study of acylcarnitines is an active area of research and it is likely that many novel acylcarnitines will be discovered in the coming years. It is also likely that many novel roles in health and disease will be uncovered. An excellent review of the current state of knowledge for acylcarnitines is available at [Dambrova et al. 2021, Physiological Reviews]. 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 Molecular Bases of Inherited Disease, Chapter 93) [HMDB]

Pivaloylcarnitine

3-[(2,2-dimethylpropanoyl)oxy]-4-(trimethylazaniumyl)butanoate