Patient's question:
My niece was found to have a negative result in the phenylketonuria screening during the blood test at birth. I would like to consult about what to do if the phenylketonuria screening is negative.Doctor's answer:
Neonatal phenylketonuria screening is not qualified in blood tests. This may be because the child suffers from a metabolic disease of this amino acid. Therefore, further tests are needed to obtain a clear diagnosis. This disease has a significant impact on children. It is prone to cause intellectual disability and neurological symptoms in children. Therefore, treatment should be initiated as soon as possible. This disease should be treated as early as possible. Through early treatment, it can allow the child to recover as much normal intelligence as possible.