Patient's question:
My little nephew is two years old this year. A few days ago, he was carefully diagnosed with phenylketonuria. The whole family had never heard of this disease before. What is phenylketonuria? Is it a very serious disease? How is this disease treated? What kind of medicine is usually used? Is surgery required?Doctor's answer:
Phenylketonuria is an amino acid metabolic disease. Phenylalanine cannot be normally metabolized in the body, leading to its accumulation and elevated levels. Children often exhibit intellectual disability and a distinctive odor in their urine. Treatment primarily relies on dietary control, such as consuming fewer foods containing phenylalanine, and infants and young children should be fed specially formulated. Intellectual disability can be addressed through rehabilitation training. Surgical treatment is not possible. It is essential to maintain adequate rest during daily life.