2-Oxoisocaproate

2-oxoisocaproate is an organic acid that accumulates in urine when leucine metabolism is impaired. Elevated urinary levels may indicate maple syrup urine disease (MSUD) or other branched-chain amino acid metabolism disorders. These are serious inherited conditions that can cause neurological damage, developmental delays, and metabolic crisis if untreated. Newborn screening typically identifies MSUD early, but this test may be used in older children or adults with undiagnosed metabolic issues. Positive findings require immediate specialist evaluation.