Question
My son is four years old, and recently, we’ve noticed that some of his hair has turned white. He used to be very intelligent, and he could almost recognize all the characters we taught him. However, lately, even after teaching him several times, he finds it hard to remember them. We are worried about his health, so I want to ask what the symptoms of phenylketonuria are.
Answer
Phenylketonuria is a congenital amino acid metabolism disorder. The main symptoms include intellectual disability, yellowing of hair, a distinctive body odor, particularly a mouse urine smell, and elevated levels of phenylalanine in the blood. After diagnosis, a low phenylalanine diet should be adopted for symptomatic treatment, and the concentration of phenylalanine in the blood should be monitored regularly. This should at least continue into adolescence; early treatment yields better results, and lifelong treatment can lead to better outcomes for patients.