Question
What is Phenylketonuria?
Answer
Phenylketonuria is an amino acid metabolism disorder caused by a deficiency in phenylalanine hydroxylase, which blocks the metabolism pathway of phenylalanine, leading to symptoms such as growth and intellectual development delay, tics, hyperreflexia, and eczema. If not treated promptly, it may cause intellectual impairment. Usually, this condition should be prevented and detected early through avoiding consanguineous marriage and regular newborn screening.