Aminoaciduria
Alternate Names : Amino Acids - Urine, Urine Amino Acids
Definition This test screens for increased levels of amino acid excretion in the urine that indicates possible inborn errors of metabolism caused by a specific enzyme deficiency.
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Why is the Test Performed?
This test is performed to assess amino acid levels in the urine. It is common for some of each amino acid to be in the urine, but elevated levels of individual amino acids indicates a possible inborn enzyme deficiency.
While this test shows increased levels of amino acids in the urine, a 24-hour quantitative urine chromatography is necessary to accurately measure the elevated levels of the specific amino acids.
The increased levels also show up in the blood plasma (see plasma amino acids). If the test is performed early enough on infants and the defect is treated, the severe mental retardation that can result may be prevented.
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