Managing phenylketonuria (PKU) l Lowering Phe Concentrations

Managing phenylketonuria (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 levels^4,5

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

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.

Re-engaging lost to follow-up (LTFU) young adults and adults with PKU is important*

LTFU 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 LTFU patients^7*

Ensure that patients are aware of current management guidelines for PKU⁷

Communicate any new treatment and dietary options for PKU⁷

Recognize and address the neuropsychological and neurocognitive aspects of PKU⁷

Prioritize motivated LTFU adult patients⁷

Evaluate new approaches of outreach to LTFU adult patients⁷

Formalize approaches to track and/or identify LTFU adult patients⁷

Expert opinions for managing returning LTFU patients with PKU^8*

Safe hand, partner, individual and additional support icons — *Based on 2 publications summarizing results from a focus group of 8 LTFU 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 and Expert Meeting of 15 members from US PKU clinics. Funded by BioMarin.^7,8

Learn more about PKU

Knowing your PKU management options

In combination with a phenylalanine (Phe)-restricted diet, there are pharmacological options which may help reduce blood Phe levels for patients with PKU.

Learn more

Why metabolic control is so important^2,3,9

Learn more

Stay connected with the latest PKU information

Register below to connect with a BioMarin representative, learn about upcoming PKU events and news, or request a peer-to-peer discussion.

* Required fields

First name*

Last name*

Email address*

Phone number

Postal Code*

What best describes you?*

By checking the box to the left and clicking “Submit” below, I confirm I am at least 18 years old; and confirm I agree to BioMarin’s Privacy Policy and CCPA Notice and Terms of Use; consent to BioMarin, its successors, agents, and/or assigns using the email address I have provided to keep me informed about updates about news and developments about PKU; and confirm I understand these communications/materials may contain information that markets or advertises BioMarin products, goods, or services.*

References:

Ceberio L, Hermida Á, Venegas E, et al. Phenylketonuria in the adult patient. Expert Opin Orphan Drugs. 2019;7(6):265-276.
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.
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.
Evinc SG, Pektas E, Foto-Özdemir D, et al. Cognitive and behavioral impairment in mild hyperphenylalaninemia. Turk J Pediatr. 2018;60(6):617-624.
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.
Berry SA, Brown C, Grant M, et al. Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med. 2013;15(8):591-599.
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.
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.
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.

Lowering
phenylalanine (Phe)
is key to care¹