Elevated levels of orotic acid help lead to positive diagnoses of specific urea cycle disorders, including ornithine transcarbamylase deficiency (OTC), citrullinemia, and arginosuccinic aciduria. Rare hereditary disorders may also be diagnosed via elevation of orotic acid, namely orotic aciduria and uridine monophosphate synthase deficiency, which may be physiologically characterized by megaloblastic anemia and crystalluria. Normal levels of orotic acid assist in the accurate differential diagnoses of patients with elevated plasma ammonia and low plasma citrulline and arginine levels caused by liver infections, carbamoylphosphate synthetase I deficiency (CPSI), or N-acetyl glutamate synthetase deficiency (NAGS).
Screw cap plastic container (non sterile)
Frozen (strict) - 14 days
Ambient - NO
Refrigerated - NO
Liquid chromatography/tandem mass spectrometry (LC/MS-MS)