Orotic Acid, Urine
Availability: Mon. - Fri., 0800 - 1700
Turnaround Time: 2 - 3 days.
Minimum Volume: 1.0 mL (at least 2.0 mL preferred).
Specimen Handling: Random urine, morning specimen preferred. Freeze without preservative.
Interpretive Reference Range: Normal < 4.7 mg/mg
creatinine.
Use: Useful, together with serum and urine amino acids,
in localizing urea cycle defects. Increased in
ornithine transcarbamylase (OTC) deficiency, citrullinemia, argininosuccinic acidemia,
HHH (hyperornithinemia-hyperammonemia-homocitrullinuria) syndrome, and hereditary
orotic aciduria.
Methodology: Stable isotope dilution gas chromatography-mass
spectrometry (GC/MS).
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