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.
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
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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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