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Lowering Phe levels
is key to care1

Managing PKU

Considerable knowledge has been gained regarding the improvement of neurological and neuropsychosocial symptoms associated with reduction of phenylalanine (Phe).2,3

  • Elevated Phe correlates with neuropsychological symptom severity, which generally improves with Phe reductions2
  • Emerging clinical evidence suggests that additional benefits may be attained when Phe is below recommended levels4,5
Low Phe icon

Guidelines recommend lifetime maintenance of Phe concentrations ≤360 µmol/L2

  • Treatment should be started as early as possible and maintained for life
  • Any combination of therapies that helps keep blood Phe levels in the recommended range is appropriate

The American College of Medical Genetics and Genomics (ACMG) released guidelines in 2014 on the diagnosis and management of phenylketonuria (PKU) – 
View the complete ACMG Guidelines here.

Maintenance of Phe concentrations icon

Re-engaging lost-to-follow-up young adults and adults with PKU is important

  • Lost-to-follow-up adults have poor PKU management and outcomes compared with patients who attend clinic regularly2
  • ACMG guidelines state that patients who have stopped therapy (dietary or medication) will likely see improvements in their symptoms if they return to management2

What experts say about re-engaging patients who are lost to follow-up7*

Communicate any new treatment and dietary options for PKU7

Ensure that patients are aware of current management guidelines for PKU7

Recognize and address the neuropsychological and neurocognitive aspects of PKU7

Prioritize motivated lost-to-follow-up adult patients7

Evaluate new approaches of outreach to lost-to-follow-up adult patients7

Formalize approaches to track and/or identify lost-to-follow-up adult patients7

*Based on 2 publications summarizing results from a focus group of 8 lost-to-follow-up adults with PKU observed by 10 clinicians, followed by an advisory session with the group of physicians, and an online survey of 55 US PKU clinics an Expert Meeting of 15 members from US PKU clinics. Funded by BioMarin.

Expert opinions for managing returning lost-to-follow-up patients with PKU8*

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Learn more about PKU

Stay current with PKU news and events

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References: 1. Ceberio L, Hermida Á, Venegas E, et al. Phenylketonuria in the adult patient. Expert Opin Orphan Drugs. 2019;7(6):265-276. 2. 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. 3. 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. 4. Evinc SG, Pektas E, Foto-Özdemir D, et al. Cognitive and behavioral impairment in mild hyperphenylalaninemia. Turk J Pediatr. 2018;60(6):617-624. 5. Jahja R, Huijbregts S, de Sonneville LMJ, van der Meere JJ, van Spronsen FJ. Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria. J Pediatr. 2014;164(4):895-899. 6. Berry SA, Brown C, Grant M, et al. Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med. 2012:1-9. 7. Beazer J, Breck J, Eggerding C, et al. the PKU Lost to Follow-up Recommendations Group. Strategies to engage lost to follow-up patients with phenylketonuria in the United States: best practice recommendations. Mol Genet Metab Rep. 2020;23:100571. doi: 10.1016/j.ymgmr.2020.100571. 8. Thomas J, Nguyen-Driver M, Bausell H, Breck J, Zambrano J, Birardi V. Strategies for successful long-term engagement of adults with phenylalanine hydroxylase deficiency returning to the clinic. J Inborn Errors Metab Screen. 2017;5:1-9.