Patient's question:
My little nephew is two years old. He was recently diagnosed with phenylketonuria after a thorough examination. The whole family had never heard of this disease before. Hello, what is phenylketonuria?Doctor's answer:
In the case of this patient, phenylketonuria is an amino acid metabolic disorder. Phenylalanine cannot be normally broken down and metabolized in the body, leading to its accumulation and elevated levels. The child often exhibits intellectual disability and a special odor in the urine. Treatment primarily relies on dietary restrictions, such as consuming less phenylalanine-rich foods, and infants and young children should be fed specialized formula. Intellectual disability can be addressed through rehabilitation training. Surgical treatment is not possible.