Orotic Acid Analysis

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.

Turnaround Time

10 days

CPT Code(s)

83921

Cost

$100

• Ornithine transcarbamylase (OTC) deficiency
• Citrullinemia Type 1
• Argininosuccinic aciduria

Patients with hyperammonemia

liquid chromatography-tandem mass spectroscopy (LC-MS/MS)

5 ml of urine is requested. The minimum volume is 1.5 ml. Collect urine in a sterile container and freeze after collection.

Urine should be sent frozen on dry ice by courier or `next-day delivery.