OMX Organic Metabolomics / Diagnostic Solutions

a-­Ketoisocaproic Acid

Optimal Result: 0 - 17 nmol/mg Creatinine.

2-Ketoisocaproic Acid is a B-Complex Vitamin Marker (Leucine catabolism).

2-Ketoisocaproic Acid is an abnormal metabolite that arises from the incomplete breakdown of branched-chain amino acids.

Chronically high levels of 2-Ketoisocaproic Acid 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.

What does it mean if your a-­Ketoisocaproic 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 a-­Ketoisocaproic 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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