Question
Is it possible to cure a child with phenylketonuria?
Answer
Phenylketonuria (PKU) is a common amino acid metabolism disorder, and its treatment primarily relies on early diagnosis and dietary therapy. Infants with PKU should start on a low phenylalanine diet as early as possible to control the concentration of phenylalanine in their blood. The effectiveness of treatment is closely related to the age at which it begins, with younger ages showing better outcomes. Additionally, for children with PKU who lack BH4, medications such as BH4, 5-hydroxytryptophan, and L-DOPA may be required. Lifestyle management is also crucial, including avoiding consanguineous marriage, conducting newborn screening, and performing prenatal diagnosis for pregnant women with a family history.