Patient's question:
My baby doesn't show any abnormalities in daily life. Feeding and napping are all normal, and the family is still immersed in joy. Yesterday, my baby was diagnosed with mild phenylketonuria (PKU) after a thorough examination at the Neonatal Disease Screening Center of the Maternal and Child Health Hospital. The central hospital in the county called to make the announcement.What is mild phenylketonuria (PKU)?
Doctor's answer:
Light PKU, phenylketonuria, is a genetic metabolic disease caused by a decrease in the activity of phenylalanine hydroxylase or a lack of its coenzyme tetrahydrobiopterin, leading to the blockage of phenylalanine's breakdown into tyrosine. This results in elevated levels of phenylalanine in the blood and urine, as well as a significant increase in phenylpyruvate, phenylacetic acid, and phenyllactic acid in the urine, hence the name "phenylketonuria." Wishing the patients a speedy recovery, a healthy body, and a wonderful life.