Question
Screening for newborn diseases - check for PKU
Answer
Phenylketonuria (PKU) is a genetic metabolic disorder caused by a decrease in the activity of phenylalanine hydroxylase or a deficiency in its cofactor tetrahydrobiopterin, leading to a blockage in the metabolism of phenylalanine into tyrosine. This results in an increased concentration of phenylalanine in the blood and tissues, and a significant increase in phenylpyruvate, phenylacetic acid, and phenyllactic acid in the urine, hence the name “phenylketonuria.” Children with the condition may exhibit congenital dementia. It is recommended to go to a regular hospital for a comprehensive examination to accurately diagnose and treat the symptoms early on.