DBS PKU (Phenylalanine) > 1 Mth

What is the Phenylketonuria (PKU) test?

The PKU test is a newborn screening test that measures phenylalanine levels in the blood. It is used to detect phenylketonuria, a rare inherited metabolic disorder that prevents the body from breaking down phenylalanine.


Why is this test performed?

This test is performed to diagnose PKU early, as untreated PKU can lead to intellectual disabilities, developmental delays, and neurological problems. Early detection allows for dietary interventions that prevent complications.


How is the test conducted?

A few drops of blood are collected from the newborn's heel and analyzed for phenylalanine levels. The test is typically done within the first few days after birth but can be repeated at one month if necessary.


What do the test results indicate?

Elevated phenylalanine levels suggest PKU, while normal levels indicate that the baby does not have the disorder. If levels are high, further genetic testing and metabolic evaluations may be required.


How is PKU managed if diagnosed?

PKU is managed through a strict low-phenylalanine diet, avoiding high-protein foods. Special medical formulas may also be required to ensure proper nutrition without the harmful buildup of phenylalanine.