Patient's question:
My baby has recently had a recurrence of eczema, and I've already gone to the hospital for a thorough check-up. Instead, I picked up some ointment from the pharmacy. However, the ointment didn't help, and the eczema didn't worsen. This morning, I also experienced vomiting again. I need to go to the hospital for a thorough check-up. The doctor suspects it might be phenylketonuria, but it's not certain. I don't know what diagnostic criteria this condition has. I'm seeking help: What are the diagnostic criteria for phenylketonuria?Doctor's answer:
Phenylketonuria (PKU) is a type of congenital metabolic disease, inherited in an autosomal recessive manner across generations. Due to a chromosomal gene mutation, it leads to a deficiency of phenylalanine hydroxylase (PAH) in the liver, resulting in impaired phenylalanine (PA) catabolism and causing damage to the central nervous system. Since PKU is also a congenital metabolic disease, if someone in the family has PKU, this can also serve as an indication for diagnosis. The best treatment method is dietary control, and it is essential to consume a lot of low-protein foods.