Question

How is phenylketonuria diagnosed? What are the prevention and treatment methods?

Answer

To prevent phenylketonuria, it is advisable to avoid close relative marriages and conduct newborn screening to detect cases early. For pregnant women with a family history, amniotic fluid DNA testing or urine tests can be used for prenatal diagnosis. Once diagnosed, treatment should be started as early as possible, primarily through dietary therapy. The earlier the treatment begins, the better the outcome. Pregnant women should pay attention to their nutritional intake and undergo regular prenatal checks.