Question
Lately, my child has been feeling unwell, which is affecting their school performance. They say they don’t want to go, and they can’t sleep at night. Sometimes they feel dizzy and uncomfortable. How can phenylketonuria be prevented?
Answer
Phenylketonuria is a common hereditary amino acid metabolism disorder caused by an enzyme defect in the metabolism pathway of phenylalanine, leading to the accumulation and excessive excretion of phenylalanine and its ketones in the urine. To prevent phenylketonuria, it is recommended that you undergo genetic counseling and perform genetic testing before both partners conceive. During pregnancy, you can use non-invasive DNA testing or examine amniotic fluid for purines for prenatal diagnosis. In addition to pediatric medication treatment, patients should also pay attention to diet, such as maintaining a light diet and engaging in more outdoor activities. At the same time, patients should choose a professional hospital for treatment to achieve good therapeutic effects.