Question
My niece was born just over a month ago, and the result of the newborn disease screening for PHE was zero. What does this mean?
Answer
The newborn disease screening for PHE primarily checks whether the baby has congenital phenylketonuria. If the screening result is zero or null, it usually means that phenylalanine hydroxylase (PHE), an enzyme associated with phenylketonuria, has not been detected. This suggests that the baby may not have phenylketonuria, but the specific situation needs to be determined by a doctor based on further examination and assessment. If there are any concerns or worries, it is recommended to consult a pediatrician for a more detailed explanation and advice.