Question

A newborn baby was diagnosed with phenylketonuria within 14 days of birth, and has not yet received treatment. How should it be handled?

Answer

Phenylketonuria is a genetic disorder caused by an abnormal metabolism of phenylalanine. If infants with this condition are diagnosed and treated before symptoms appear, particularly through early detection via neonatal screening, timely treatment can lead to approximately 90% of patients achieving normal intelligence levels. However, without treatment or delayed treatment, many children may experience delays in intellectual, motor, and language development. The treatment for phenylketonuria should be determined based on the individual’s genotype and should maintain blood phenylalanine levels within a specific range. Additionally, families with children with phenylketonuria who plan to have another child can undergo prenatal diagnosis to test if the fetus has the disease.