Patient's question:
These days, my child hasn't been feeling well, which has affected his school performance. He says he doesn't want to, and he often can't sleep at night. Sometimes he feels anxious and uncomfortable. How can phenylketonuria be prevented?Doctor's answer:
Phenylketonuria (PKU) is a common inherited amino acid metabolic disorder caused by a deficiency of enzymes in the phenylalanine catabolic pathway, leading to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. It is recommended that you consult a genetic counselor through generational inheritance. Both partners can undergo genetic testing, and after pregnancy, non-invasive DNA prediction or amniotic fluid tryptophan testing methods can be used to perform prenatal diagnosis for the fetus. In addition to medication treatment for pediatrics, patients also need to pay attention to dietary aspects, such as maintaining a light diet and engaging in more outdoor activities. At the same time, patients should also pay attention to choosing a professional hospital for diagnosis to achieve good treatment effects.