2-Oxoisocaproate

ChemistryAlso known as: 2-oxo-isocaproic acidAlso known as: α-ketoisocaproic acidN/A

Detects the presence of 2-oxoisocaproate in serum or plasma, a branched-chain amino acid metabolite.

Normal Range

Consult your provider

N/A

Abnormal Levels

Consult your provider

Specimen Type

Blood

Why This Biomarker Matters

Elevated 2-oxoisocaproate suggests branched-chain amino acid metabolism disorders like maple syrup urine disease. Early detection and dietary management prevent severe neurological complications and metabolic crisis.

Overview

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.

Technical Information (LOINC Codes)

Standardized laboratory codes for this biomarker

35870-5Primary

2-Oxoisocaproate [Moles/volume] in Serum or Plasma

umol/L

29865-3

2-Oxoisocaproate [Presence] in Urine

4100-4

2-Oxoisocaproate [Mass] of Dose

69804-3

2-Oxoisocaproate [Moles/volume] in Cerebral spinal fluid

umol/L

Available Lab Tests

Order tests that measure this biomarker

Urinary Organic Acids

$586.08

Results in 7-14 business days