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A NEW WORLD
With PKU

With 25 years of expertise in rare diseases, PTC Therapeutics is proud to support the PKU community. We understand the challenges of managing PKU and are committed to reimagining the future of care.

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PKU(Phenylketonuria)
Phenylketonuria (PKU) is a genetic disorder characterized by the body's inability to break down an amino acid called phenylalanine.

Rethink the Challenges,
Redefine the Possibilities

From early diagnosis to lifelong management, PKU demands more than diet alone.

Reimagine new ways to navigate challenges and open the door to greater possibilities at every stage of life

Early detection, lifelong management: Keep Phe in check1,2

The American College of Medical Genetics (ACMG) now strongly recommends maintaining Phe ≤360 μmol/L for life, emphasizing its link to higher IQ and advising that Phe levels be reduced as close to normal as possible.2

The impact of untreated or inadequately managed PKU at different life stages:

  • Childhood:

    Irreversibly impaired brain development.3,4

  • Adulthood:

    Severe behavioral or psychiatric problems.4

  • Pregnancy (Women with PKU):

    Impaired fetal growth and development.3,5

Even patients who start dietary management early are at risk6

Children may face academic struggles, attention deficit hyperactivity disorder (ADHD), and impaired bone formation. Adults may experience mood disorders, social challenges, and low bone density.6,7

Due to adherence challenges, dietary Phe restriction may not be enough2

The ACMG acknowledges the need for new therapeutic options beyond diet. With more investigational treatments for PKU being developed, monitoring remains critical, with blood Phe as the gold standard for tracking treatment effectiveness.2

Imaginemore:

Stay informed with the most up‑to‑date 2023 ACMG guidelines on PKU management.

The Role of Diet in Patient Outcomes

Managing PKU through diet alone presents significant challenges, including social isolation, emotional stress, and barriers to adherence due to the complexity of dietary restrictions. Experts highlight the life-altering impact of achieving diet normalization, which offers freedom, improves quality of life, and reduces dependency on medical formula.8-10

The testimonials in these videos reflect the speakers' expert opinions, professional insights, and clinical experience. The speakers have been compensated for their participation.

Hear experts discuss the limitations of dietary management and the need for new approaches in PKU care.

Listen to leading experts discuss how diet normalization can transform the daily lives of patients with PKU.

Healthcare Professionals, we need your input!

We value your experiences and insights. Please take a few minutes to complete our survey, which will help us better understand the challenges and successes of managing PKU.

PTC Reimagines PKU

At PTC Therapeutics, we understand the unique challenges of managing PKU, especially given the lack of significant advancements in treatment over the past six years. We're committed to developing innovative solutions to support you better, aiming for a future where individuals can live more freely with PKU.

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Sign up to stay connected with PTC Therapeutics and receive the latest updates on treatment advancements and innovations for PKU.

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Support for Managing PKU

Help patients navigate the challenges of PKU with trusted organizations and resources designed to improve care and outcomes.

  • National PKU Alliance

    National PKU Alliance

    Find resources for individuals with PKU and their families. Explore their comprehensive guides and support programs designed to assist with the unique challenges of PKU.

  • flok

    flok

    flok supports those living with PKU and their caregivers by providing an app for daily PKU management, educational resources, community connections, and the opportunity to drive research through daily care. Care and Research, Together. That's flok.

  • National Organization for Rare Disorders

    National Organization for Rare Disorders (NORD)

    NORD offers the latest information about PKU research and care, as well as financial assistance for patients and resources to connect with the rare disease community.

  • Global Genes® Allies in Rare Disease

    Global Genes

    Global Genes provides information, resources, and connections to communities affected by rare diseases.

Imaginemore:

It's time to reimagine the future of PKU! Stay informed, get inspired, and embrace the advancements transforming PKU management.

References: 1. Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188-200. 2. Smith WE, Berry SA, Bloom K, et al. Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025;27:101289. 3. van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12:162. 4. Mitchell JJ, Trakadis YJ, Scrivener CR. Phenylalanine hydroxylase deficiency. Genet Med. 2011;13(8):697-707. 5. MacDonald A, van Wegberg AMJ, Ahring K, et al. PKU dietary handbook to accompany PKU guidelines. Orphan J Rare Dis. 2020;15(1):171. 6. Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab. 2010;101(2-3):99-109. 7. Van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria. Nat Rev Dis Primers. 2021;7(1):36. 8. McWhorter N, Ndugga-Kabuye MK, Puurunen M, Ernst SL. Complications of the Low Phenylalanine Diet for Patients with Phenylketonuria and the Benefits of Increased Natural Protein. Nutrients. 2022;14(23):4960. 9. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417-1427. 10. Bernstein L, Hansen J, Kogelmann C, et al. Normalizing Diet in Individuals with Phenylketonuria Treated with Pegvaliase: A Case Series and Patient Perspective. Nutr Diet Suppl. 2021;13:145-154.

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US-PKU-0216 03/25

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