Phenylketonuria

The most important patient instructions are those related to dietary interventions. These need to be reviewed at each clinic visit. Extensive support is required at the time of the initial diagnosis of PKU. Parents should be reassured that their child will not have intellectual disability and can be expected to grow and develop like all other children. As children grow older, education needs to continually emphasize the adverse consequences of loss of metabolic control. Parents should be assisted in educating the child to gradually participate in his or her own care, including mixing formulas, doing blood tests, and completing diet records. In the case of patients taking tetrahydrobiopterin (BH4), the importance of taking the medication on a daily basis should be emphasized.