After an allopurinol load, levels of orotic acid and orotidine are increased in timed urine samples of patients heterozygous for a defect in the urea cycle enzyme ornithine transcarbamylase. Orotic acid and orotidine are measured by an HPLC method.
The allopurinol load test is used to detect female carriers of the X-linked urea cycle disorder ornithine transcarbamylase deficiency (OTC). When OTC carrier females are loaded with allopurinol, orotic acid and orotidine accumulate to abnormal levels in timed urine samples.
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