Patient's question:
After the child was born, a positive result was found in the seven-day heel prick blood screening. The hospital reported for retesting, and the retest result was still positive. At the age of 50 days, we went to Gansu Provincial Maternal and Child Health Hospital for a thorough examination. All other tests were normal, but phenylalanine was 3.14. Is this value high? Is it likely to be phenylketonuria? Below are the results of the initial screening after birth.Doctor's answer:
Based on the situation you described and the careful examination results, the possibility of phenylketonuria is high. Considering the baby's current condition, it is recommended to diagnose early and start treatment early. The normal concentration of phenylalanine is less than 2 mg/dL, and the baby's value is 3.14. Once the disease is diagnosed, treatment should be started immediately. The earlier the age at which treatment begins, the better the prognosis. Wishing the patient a speedy recovery, a healthy body, and a wonderful life.