2-Oxoisocaproic acid (also known as Ketoleucine) is an abnormal metabolite that arises from the incomplete breakdown of branched-chain amino acids.
2-Oxoisocaproic acid is both a neurotoxin and a metabotoxin.
Neurotoxin:
A neurotoxin causes damage to nerve cells and nerve tissues.
Metabotoxin:
A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels.
Chronically high levels:
Chronically high levels of ketoleucine are associated with maple syrup urine disease (MSUD). 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.
Symptoms of MSUD:
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
Moderate high levels:
A moderate increase of branched-chain amino acid metabolites in urine may result from lactic acidosis, episodic ketosis, or de ficiencies of the vitamins, thiamine or lipoic acid.
Patients with slight to moderate elevations may use dietary supplements containing thiamine to improve clinical symptoms.
2-Oxoisocaproic (Males Age 13 and Over)
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