Patient discussions

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 phenylketonuria (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.

It is well established that blood phe control deteriorates into adulthood.[10][17]​ Therefore, as children grow older, education needs to continually emphasise 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.​[10][17]​ In the case of patients taking tetrahydrobiopterin (BH4), the importance of taking the medication on a daily basis should be emphasised.

Women of childbearing age with PKU should receive comprehensive preconception counselling that includes consultation with a maternal-fetal medicine specialist and a genetic counsellor. Collaborative care with a metabolic geneticist or another specialist involved in PKU management is strongly recommended to ensure that patients understand their reproductive options and family planning considerations. These consultations should also cover the management of maternal PKU before, during, and after pregnancy.[18] See Complications.

Pregnant women with PKU should be informed that breastfeeding is safe, provided the infant does not also have PKU.[18]

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