Patient's question:
Newborn disease screening result PHE value 2.37 is high, requiring re-examination. Is the pass rate generally high for re-examination?Doctor's answer:
Hello! Phenylketonuria is a common amino acid metabolic disease. It is caused by a deficiency of enzymes in the phenylalanine metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. When the phenylalanine content is greater than 0.24 MLM/L, which is twice the normal reference value, quantitative testing or collection of phenylalanine and tyrosine should be performed. Once the diagnosis is confirmed, active treatment should be given as early as possible, primarily through dietary therapy. The younger the age of treatment initiation, the better the outcome.