Patient's question:
I don't know what's going on, but my child has been misbehaving and crying non-stop lately. Even the hospital check-ups haven't helped. What is phenylketonuria?Doctor's answer:
Phenylketonuria is an amino acid metabolic disorder. Due to the lack of phenylalanine enzyme, it leads to the disruption of the phenylalanine metabolic pathway, resulting in symptoms such as growth and intellectual development delays, tics, reflexive tension, and eczema. If not treated promptly, it can cause intellectual impairment. Generally, for this disease, we should prevent consanguineous marriages and carry out regular newborn screening to detect and treat it early.