Phenylketonuria screening in Iranian newborns: A systematic review and metaanalysis

Phenylketonuria (PKU), which is characterized by a deficiency of phenylalanine hydroxylase activity, is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Newborn screening is the main populationbased public health screening program that allows successful identification and treatment of PKU with low-Phe diet.