Patient's question:
Your own child has just been born for a short time, and you always see his hair color is very light. You take him to the hospital for a thorough examination. The nurse smells his urine and suspects that the child may have some physical disease. A thorough examination reveals that the child really does have phenylketonuria. What is phenylketonuria?Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder, primarily caused by a deficiency in enzymes within the phenylalanine metabolic pathway, leading to the accumulation of phenylalanine and its derivative, phenylpyruvate. PKU can cause severe harm to the central nervous system and also affect a child's growth and development. It is recommended that children receive treatment as early as possible. The treatment primarily focuses on medication, with drugs such as BH4 or 5-hydroxytryptamine (serotonin) analogs being used for patients.