Screening for phenylketonuria

Phenylketonuria (PKU) screening is an important test for newborn screening. Phenylketonurics (phenylketonurics; PKU) is a common amino acid metabolic disease, which is caused by enzyme defects in the phenylalanine metabolic pathway, which makes phenylalanine unable to be converted into tyrosine, resulting in Keto acids accumulate and are excreted in large amounts from the urine. The main clinical manifestations are mental retardation, seizures and hypopigmentation. The disease is an autosomal recessive.

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