Patient's question:
My son is four years old this year. Recently, the family suddenly noticed that some of his hair has turned white. He used to be very smart; when I taught him to recognize characters, he could almost remember them after being shown a few times. But recently, it's become difficult for him to remember even after being taught several times. Worried about his health, I wanted to ask what are the symptoms of phenylketonuria?Doctor's answer:
Phenylketonuria is a congenital metabolic disorder caused by abnormal amino acid catabolism. If there is a recurrence of intellectual disability, hair color changing from black to yellow, a special body odor, especially a urine-like odor, and elevated blood phenylacetic acid levels, it should be considered as phenylketonuria. It is best to give the baby a thorough examination and diagnosis. Once diagnosed, symptomatic treatment should be initiated, primarily using a low-phenylalanine diet. Additionally, phenylalanine concentration data should be monitored periodically. At least this should be maintained until puberty, as the earlier the treatment, the better the outcome. Lifelong treatment is more effective for patients.