Aminoaciduria
Alternative names:
amino acids - urine; urine amino acids
How the test is performed:
Infant: Your infants genital area will be cleaned and dried, then a collection device is attached to collect the urine. If you are asked to collect the urine, be sure the collection device is attached securely to prevent leakage. After your baby has urinated, the urine (at least 20 cc) is transferred to a sterile container.
Child/adult: To obtain a clean-catch sample, males should wipe clean the head of the penis. Females need to wipe between the labia with soapy water and rinse well. Sometimes a special clean-catch kit is provided with cleansing solution and sterile wipes. After urinating a small amount into the toilet bowl to clear the urethra of contaminants, collect a sample of urine in a clean or sterile container. About 1 to 2 ounces of urine is needed for a test. Remove the container from the urine stream without stopping the flow. You may finish voiding into the toilet bowl. Take the sample to the lab.
How to prepare for the test:
No restriction of food or fluid is necessary.
Inform your health care provider of any medication you or your child has used recently. If your infant is breast feeding and having this test performed, inform the health care provider of any medications the mother is taking.
How the test will feel:
The test involves only normal urination.
Why the test is 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 identify elevated levels of specific amino acids. Certain enzymes convert or combine amino acids into other products that the body can use. If an amino acid enzyme is not present, that particular amino acid continues to accumulate. The increased levels show up in plasma amino acids and in the urine, as a test reveals. 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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