Adherence to clinic recommendations among patients with phenylketonuria in the United States

E. R. Jurecki, S. Cederbaum, J. Kopesky, K. Perry, F. Rohr, A. Sanchez-Valle, K. S. Viau, M. Y. Sheinin, J. L. Cohen-Pfeffer

Research output: Contribution to journalArticlepeer-review

119 Scopus citations


Objective Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency, as well as patient adherence to their clinic's management practice recommendations. Methods An online survey was conducted with medical professionals from PKU clinics across the US from July to September 2015. Forty-four clinics participated in the survey and account for approximately half of PKU patients currently followed in clinics in the US (Berry et al., 2013). Results The majority of PKU clinics recommended target blood Phe concentrations to be between 120 and 360 μM for all patients; the upper threshold was relaxed by some clinics for adult patients (from 360 to 600 μM) and tightened for patients who are pregnant/planning to become pregnant (to 240 μM). Patient adherence to these recommendations (percentage of patients with blood Phe below the upper recommended threshold) was age-dependent, decreasing from 88% in the 0–4 years age group to 33% in adults 30 + years. Patient adherence to recommendations for blood testing frequency followed a similar trend. Higher staffing intensity (specialists per 100 PKU patients) was associated with better patient adherence to clinics' blood Phe concentrations recommendations. Conclusion Clinic recommendations of target blood Phe concentrations in the US are now stricter compared to prior years, and largely reflect recent guidelines by the American College of Medical Genetics and Genomics (Vockley et al., 2014). Adherence to recommended Phe concentrations remains suboptimal, especially in older patients. However, despite remaining above the guidelines, actual blood Phe concentrations in adolescents and adults are lower than those reported in the past (Walter et al., 2002; Freehauf et al., 2013). Continued education and support for PKU patients by healthcare professionals, including adequate clinic staffing, are needed to improve adherence. Future research is needed to understand how to improve adherence to reduce the number of patients lost to follow-up, as the findings of this and similar surveys do not address how to keep patients in clinic.

Original languageEnglish
Pages (from-to)190-197
Number of pages8
JournalMolecular Genetics and Metabolism
Issue number3
StatePublished - 1 Mar 2017
Externally publishedYes


  • ACMG guidelines
  • Adherence
  • Adults
  • Blood phenylalanine
  • Phenylketonuria


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