Question

What is Phenylketonuria?

Answer

Phenylketonuria is an amino acid metabolic disorder where phenylalanine cannot be normally metabolized and broken down in the body, leading to its accumulation and elevated levels. Children with this condition often exhibit intellectual disability and a unique smell in their urine. Treatment mainly relies on dietary control, reducing the intake of phenylalanine-rich foods, and the use of specialized infant formula. In cases of intellectual disability, rehabilitation training can be provided, but there is no surgical treatment method available.