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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 oftentimes in argininosuccinic
aciduria. Orotic acid determination is useful in delineating
the cause of hyperammonemia.
Specimen requirements: For orotic acid analysis, at least
10 ml urine is needed.
Transport: Urine should be sent frozen on dry ice by courier
or 24 hour delivery service.
Standard of Analysis: Orotic acid is measured by capillary
electrophoresis, and results are compared with controls run concurrently.
Time Required: Assays will be completed in one week.
Report: A report will include the level of orotic acid
in micromol per mmol creatinine and compared to control values
with interpretation. Results may be sent by FAX or email when
requested.
CPT Code: 84999
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