Phenylketonuria (PKU)

PKU (phenylalanine hydroxylase enzyme or its cofactor tetrahydrobiopterin deficiency) is a genetic disorder caused by the inability to metabolize the amino acid phenylalanine to the amino acid tyrosine.

Infants with PKU can be detected in newborn screenings and must follow a low phenylalanine diet. For infants with PKU, breastmilk has advantages such as a low content of the amino acid, phenylalanine and protein. Research shows that infants breastfeeding before diagnosis of PKU and intervention had a 14-point higher IQ than infants who were formula fed before diagnosis (Banta-Wright SA. et al., 2014).

Provider Resources

Patient Resources