Patient's question:
On the 7th day after my child was born, the doctor drew blood for screening. By the 22nd day, I was informed of the screening results: PA: 121, suspected of phenylketonuria. I would like to ask the experts what the normal value of phenylketonuria is?Doctor's answer:
Newborns may have transient hyperphenylalaninemia after birth, which is related to enzyme activity and can gradually return to normal.Medical advice: PKU screening tests should be conducted, and serum phenylalanine levels may be measured if necessary. Typically, a diagnosis can be confirmed when the child's serum phenylalanine level is as high as 1.2 mmol/L (20 mg/dL) or more. Early clinical manifestations include yellow hair and pale skin, but these are non-specific.