Question

What should be done when the PHE value in a newborn’s disease screening is elevated?

Answer

When the newborn’s disease screening result shows an elevated PHE value, further examination or quantitative blood tests for the levels of phenylalanine and tyrosine should be conducted. Phenylketonuria is an amino acid metabolism disorder where phenylalanine and its ketones accumulate in the patient’s body and are excreted in large amounts in urine. Early detection and active treatment are crucial, especially for young patients, as early intervention tends to yield better results. Treatment primarily focuses on dietary therapy to control the intake of phenylalanine.