Question

In a newborn heel prick blood test, the baby’s pPHE value was 8.1 on the first test, and the retest result reached 34.8. Could this indicate that the baby has phenylketonuria?

Answer

Based on the results of the heel prick blood test, the baby’s PHE value indeed shows an abnormal increase. However, this alone cannot confirm a diagnosis of phenylketonuria. To determine the diagnosis, further blood and urine tests are required. It is recommended to conduct a blood tyrosine test, and if the results are normal or low, a urine biotin test may be necessary. If there is still concern, it is advised to go to a higher-level hospital for more detailed examination. Additionally, maintaining good hygiene habits, a well-ventilated living environment, and adequate sleep are also important for the baby’s healthy growth.