Question
We started treating phenylketonuria when the child was just born, and now the child is three years old, receiving treatment at Linyi Maternal and Child Health Hospital. The child’s past treatment situation and effects: We have not found any hereditary causes in the child, and we hope to receive more treatment assistance.
Answer
Phenylketonuria is a genetic metabolic disorder caused by a decrease in the activity of phenylalanine hydroxylase or a lack of its coenzyme tetrahydrobiopterin, leading to the metabolic conversion of phenylalanine to tyrosine.