Orotic Acid, Urine
500 µL of urine in sterile screw top container.
- Store at -20°C and transport frozen on dry ice.
Differentiation of various Urea Cycle Defects such as: OTC deficiency, NAGS deficiency, CPS deficiency, Citrullinemia, Argininosuccinate Lyase Deficiency. Pyrimidine biosynthesis defects.
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