Patient's question:
Baby's first heel blood collection pPHE value 8.1, retest result 34.8 (the child was prematurely delivered 13 days early, and the baby turned purplish upon delivery). Can phenylketonuria be diagnosed?Doctor's answer:
The baby cannot be confirmed to have phenylketonuria at this time. Further careful examination is needed. Pay attention to hygiene and develop good habits! Ensure good ventilation in the room and get sufficient deep sleep, which helps maintain health! In your case, PBHE is more than twice the normal value (1-3 mg/dL), and the repeated test result is greater than 20 mg/dL, suggesting this condition should be questioned. It is recommended to improve blood tyrosine levels. If the results are normal or low, further careful examination of the urine purine spectrum should be conducted. If you are still not reassured, you can go to a higher-level hospital for further examination.