Serum Phenylalanine Screening
Alternate Names : Phenylalanine, Phenylalanine - Serum
DefinitionSerum phenylalanine screening is a test for the disease phenylketonuria (PKU). The test detects abnormally high levels of phenylalanine.
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Why is the Test Performed?
This test is performed on infants to screen for phenylketonuria (PKU). This disease is caused by a deficiency of the enzyme needed to breakdown the amino acid phenylalanine.
If PKU is not detected early, an affected infant will become mentally retarded as the amino acid level builds up. However, if it is detected early, the severe side effects of PKU may be avoided through diet modification. Therefore, even though the condition is relatively rare, most newborns are screened.
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