Question

What treatment methods are available for mild phenylketonuria?

Answer

Phenylketonuria is a common amino acid metabolism disorder caused by an enzyme defect in the phenylalanine decomposition metabolic pathway, leading to the inability of phenylalanine to be converted into tyrosine, thereby causing the accumulation of phenylalanine and its ketones in the body and their excessive excretion in urine. The clinical manifestations mainly include delayed intellectual development, seizures, and increased skin pigmentation. If diagnosed, treatment should be initiated as early as possible, primarily through dietary therapy. The earlier the treatment begins, the better the results.