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Discussion topics to consider with your patients with PKU

Patients may experience
symptoms of high blood Phe levels without even knowing it1,2

Consider asking your patients about their experiences living with and managing PKU, such as details about work, school, and social relationships

Rates of anxiety disorders and depression are higher in the PKU population compared with the general population3-5

Consider asking your patients if there are situations where they are struggling with work, school, or personal relationships

Impairments in executive function have been correlated with challenges in communication skills and social relationships3

Consider asking your patients if they are
experiencing feelings of social isolation

PKU management can be difficult for many patients

Consider asking your patients about their top 2 to 3 issues that they struggle with

Many adults with PKU have elevated blood Phe levels on existing management2

Could your patients be struggling to control their Phe?

A survey of 44 clinics covering more than 3000  
patients with PKU found that of adults ≥18 years of age:

Learn more about PKU

Getting patients to return to clinic is essential

Go to Helpful Tips

References: 1. Vockley J, Andersson HC, Antshel KM, et al. American College of Medical Genetics and Genomics Therapeutic Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guidelines. Genet Med. 2014;16(2):188-200. 2. Jurecki ER, Cederbaum S, Kopesky J, et al. Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol Genet Metab. 2017;120(3):190-197. 3. Ashe K, Kelso W, Farrand S, et al. Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments. Front Psychiatry. 2019;10:561. doi:10.3389/fpsyt.2019.00561. 4. Bilder DA, Noel JK, Baker ER, et al. Systematic review and meta-analysis of neuropsychiatric symptoms and executive functioning in adults with phenylketonuria. Dev Neuropsychol. 2016;41(4):245-260. 5. Bilder DA, Kobori JA, Cohen-Pfeffer JL, Johnson EM, Jurecki ER, Grant ML. Neuropsychiatric comorbidities in adults with phenylketonuria: a retrospective cohort study. Mol Genet Metab. 2017;12(1):1-8.