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Serum phenylalanine screening |
| Definition: |
| The serum phenylalanine screening is a test that screens for the disease Phenylketonuria (PKU) by detecting elevated levels of phenylalanine. |
| Alternative Names: |
| Phenylalanine; Phenylalanine - serum |
| How the test is performed: |
| Infant: The area is cleansed with antiseptic and punctured with a sharp needle or a lancet. Three drops of blood are placed in three separate test circles on a piece of paper. Cotton or a bandage may be applied to the puncture site if there is any continued bleeding. The test paper is taken to the laboratory where it is mixed with a type of bacteria that needs phenylalanine to grow, and another substance that inhibits phenylalanine from reacting with anything else. |
| How to prepare for the test: |
| Infants and children: For the physical and psychological preparation you can provide for your child, see the following topic:
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| How the test will feel: |
| When the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing. |
| Why the test is performed: |
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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. |
| Normal Values: |
| A normal test results in no bacteria growth. This indicates that there was enough phenylalanine inhibitor to prevent the bacteria from using the phenylalanine and growing. |
| What abnormal results mean: |
| Bacteria growth indicates that there was not enough phenylalanine inhibitor to prevent the bacteria from using the phenylalanine and growing. PKU is a possibility and further testing will be performed. |
| What the risks are: |
| Risks associated with venipuncture are slight: |
Reviewed By: Elizabeth Hait, M.D., Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, OH. Review provided by VeriMed Healthcare Network.
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