Development of an overdue outreach program to improve adherence to phenylketonuria management

Phenylketonuria (PKU) is an inherited autosomal recessive disorder caused by variants in the PAH gene which encodes for phenylalanine hydroxylase (PAH). PAH deficiency leads to phenylalanine (Phe) accumulation, which untreated can cause intellectual disability, microcephaly, delayed speech, seizures, psychiatric symptoms, and behavioral abnormalities. Early detection of elevated Phe through newborn screening allows for rapid initiation of a Phe-restricted diet to prevent severe neurological outcomes; however, suboptimal Phe control throughout the lifespan is associated with increased rates of psychiatric illness and deficits in executive function even in early treated patients.