Urine Amino Acids
What do the test results mean?
There are over 20 different amino acids in the urine. A low level of amino acids is normal in the urine. If the level for one or more amino acids is higher than normal, the person may have an inborn error of metabolism. In some cases, early detection in the first year of life can prevent problems such as brain damage.
The exact level of each of the amino acids in the urine helps diagnose the specific disorder. Further tests, such as blood tests, may be needed to confirm the suspected disorder. Examples of specific disorders that can cause abnormal test results are as follows:
cystinuria, which may cause kidney stones
Hartnup disease, which may cause brain damage
phenylketonuria, or PKU, which can cause mental retardation
There are many other rare inherited disorders that can cause abnormal test results. Other diseases of the kidney can also cause abnormal test results. Results should be discussed with the healthcare provider.
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