Patient's question:
I just had a baby not long ago, and I took the child to the hospital for a check-up. The results showed that the PHE value is a bit high, and I'm quite worried. I want to ask what to do if the PHE value is high in the newborn screening results?Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder caused by a deficiency in the enzyme of the phenylalanine degradation pathway, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. When phenylalanine levels exceed 0.24 mmol/L, which is twice the normal reference value, retesting or a quantitative measurement of phenylalanine and tyrosine via venous blood should be conducted. Early and active treatment is necessary, primarily through dietary therapy. The younger the patient, the better the outcome.