Showing metabocard for (S)-3-methyl-2-oxovaleric acid (MMDBc0032933)

Record Information
Version1.0
StatusDetected and Quantified
Creation Date2021-11-19 04:27:54 UTC
Update Date2022-08-31 21:48:44 UTC
MiMeDB IDMMDBc0032933
Metabolite Identification
Common Name(S)-3-methyl-2-oxovaleric acid
Description3-Methyl-2-oxovaleric acid (CAS: 1460-34-0) is an abnormal metabolite that arises from the incomplete breakdown of branched-chain amino acids. 3-Methyl-2-oxovaleric acid is a neurotoxin, an acidogen, and a metabotoxin. A neurotoxin causes damage to nerve cells and nerve tissues. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. Chronically high levels of 3-methyl-2-oxovaleric acid are associated with maple syrup urine disease. MSUD is a metabolic disorder caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), leading to a buildup of the branched-chain amino acids (leucine, isoleucine, and valine) and their toxic by-products (ketoacids) in the blood and urine. The symptoms of MSUD often show in infancy and lead to severe brain damage if untreated. MSUD may also present later depending on the severity of the disease. If left untreated in older individuals, during times of metabolic crisis, symptoms of the condition include uncharacteristically inappropriate, extreme, or erratic behaviour and moods, hallucinations, anorexia, weight loss, anemia, diarrhea, vomiting, dehydration, lethargy, oscillating hypertonia and hypotonia, ataxia, seizures, hypoglycemia, ketoacidosis, opisthotonus, pancreatitis, rapid neurological decline, and coma. In maple syrup urine disease, the brain concentration of branched-chain ketoacids can increase 10- to 20-fold. This leads to a depletion of glutamate and a consequent reduction in the concentration of brain glutamine, aspartate, alanine, and other amino acids. The result is a compromise of energy metabolism because of a failure of the malate-aspartate shuttle and a diminished rate of protein synthesis (PMID: 15930465 ). 3-Methyl-2-oxovaleric acid is a keto-acid, which is a subclass of organic acids. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart, liver, and kidney abnormalities, seizures, coma, and possibly death. These are also the characteristic symptoms of untreated MSUD. Many affected children with organic acidemias experience intellectual disability or delayed development.
Structure
MOLSDFPDBSMILESInChI

MOL for #<Metabolite:0x00007f09116934c8>

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3D MOL for #<Metabolite:0x00007f09116934c8>
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3D SDF for #<Metabolite:0x00007f09116934c8>
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3D-SDF for #<Metabolite:0x00007f09116934c8>
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PDB for #<Metabolite:0x00007f09116934c8>
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3D PDB for #<Metabolite:0x00007f09116934c8>
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SMILES for #<Metabolite:0x00007f09116934c8>
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INCHI for #<Metabolite:0x00007f09116934c8>
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SynonymsNot Available
Chemical FormulaC6H10O3
Average Molecular Weight130.1418
Monoisotopic Molecular Weight130.062994186
IUPAC NameNot Available
Traditional NameNot Available
CAS Registry Number1460-34-0
SMILESNot Available
InChI Identifier
InChI=1S/C6H10O3/c1-3-4(2)5(7)6(8)9/h4H,3H2,1-2H3,(H,8,9)/t4-/m0/s1
InChI KeyJVQYSWDUAOAHFM-BYPYZUCNSA-N