Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism, which can have significant neurodevelopment sequelae.1-3
In the United States and Europe, PKU is readily detected by PKU newborn screening, a blood test which was first instituted in the 1960s.1,6
PKU may be under-diagnosed as some countries have no screening or have only recently adopted newborn screening.8,9
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