2-Ketoisovaleric Acid

Optimal Result: 3 - 20 umol/L.

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.

What does it mean if your 2-Ketoisovaleric Acid result is too low?

Possible low B6 or secondary to low branched-chain amino acids.

– Low B6

– Low branched chain amino acids

Note: If you are on Clofibrate (Clofibrate is a lipid lowering agent used for controlling the high cholesterol) this marker might have diminished sensitivity.

Additional investigations:

– Vitamins & Minerals Analysis

– Comprehensive Urine Elements Profile

Treatment considerations:

– B6

– Branched chain amino acids

What does it mean if your 2-Ketoisovaleric Acid result is too high?

Impaired metabolism due to cofactor insufficiencies or toxic metals; OR “maple syrup urine disease” (if markedly elevated). Supplement cofactors (vitamins B1, B2, B3, B5, Mg, cysteine, or lipoic acid); remove toxic metals (As, Hg, Sb, Cd)

– Impaired metabolism due to cofactor insufficiencies or toxic metals

– “Maple syrup urine disease” if markedly elevated

Additional investigations:

– Vitamins & Minerals Analysis

– Urinary Amino Acids

Treatment considerations:

– Supplement cofactors: B1, B2, B3, B5, Mg, cysteine or lipoic acid

– Remove toxic metals: As, Hg, Pb, Cd

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