Question
What is phenylketonuria (PKU), and where can one receive the best treatment? How is the treatment process typically conducted?
Answer
Phenylketonuria (PKU) is a genetic disorder caused by a mutation in the phenylalanine hydroxylase gene, which leads to abnormal metabolism of phenylalanine, causing an accumulation of phenylalanine and its metabolites in the body, thereby severely damaging the nervous system. Currently, there is no medication for this condition; it can only be controlled through a low-phenylalanine diet. The best place for treatment is a professional pediatric hospital or genetic disease treatment center, with the focus of the treatment process on dietary management to avoid excessive intake of phenylalanine.