|Test description||Orotic acid is a chemical overproduced in an alternative pathway when there is a block in the urea cycle. Excessive amounts of orotic acid are usually found in OTC (ornithine transcarbamylase) deficiency, citrullinemia, and often in argininosuccinic aciduria. Orotic acid determination is useful in delineating the cause of hyperammonemia.|
|Disease name||Ornithine transcarbamylase (OTC) deficiency
|Indications||Patients with hyperammonemia|
|Methodology||Orotic acid is measured by liquid chromatography-tandem mass spectroscopy (LC-MS/MS).|
|Specimen Requirements||> 10 ml urine is needed|
|Transport||Urine should be sent frozen on dry ice by courier or 24 hour delivery.|
|Turnaround time||10 days|
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.