AKA: alpha-Ketoisovaleric acid
– Alpha-Ketoisovaleric acid is an abnormal metabolite that arises from the incomplete breakdown of branched-chain amino acids.
– Chronically high levels of 2-Ketoisovaleric acid are associated with maple syrup urine disease. This is a metabolic disorder caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex, 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. In maple syrup urine disease, the brain concentration of branched-chain ketoacids can increase 10- to 20-fold.
– 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 maple syrup urine disease. Many affected children with organic acidemias experience intellectual disability or delayed development.
2-Ketoisovaleric Acid
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