Question
If a newborn’s disease screening result shows a PHE value of 2.37 too high, does the re-examination usually have a high success rate?
Answer
Phenylketonuria is a common amino acid metabolic disorder. It occurs due to a lack of enzymes in the phenylalanine metabolic pathway, preventing the conversion of phenylalanine to tyrosine, leading to the accumulation of phenylalanine and its ketoacids, which are excreted in large amounts in the urine. When the phenylalanine level exceeds 0.24 MLM/L, it is twice the normal reference value, and quantitative testing or collection of phenylalanine and tyrosine should be conducted. Once a diagnosis is confirmed, treatment should be initiated as early as possible, primarily through dietary treatment. The younger the age at the start of treatment, the better the outcome.