Watch Emma's Inspiring Story
Living With PKU

Get Ready to Imagine
A NEW WORLD
With PKU

Living with Phenylketonuria (PKU) can be a journey filled with unique challenges. At PTC Therapeutics, we're listening, learning, and working to reimagine a future where you can live more freely with PKU.

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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.

We Understand Your Challenges:
Living With PKU Can Feel Overwhelming

PKU affects many aspects of life, making it easy to settle for what life is instead of what it could be. What if we raise our expectations and imagine what life with PKU would be like with more possibilities?

Mental Health & Emotional Well-being

Neurotransmitters are signaling molecules that brain cells use to communicate. Imbalances in neurotransmitter levels can impair brain function. High blood Phe levels can disrupt neurotransmitters like serotonin and dopamine, affecting mood, learning, memory, and motivation.

Daily Challenges

Anxiety, depression, and brain fog are significant challenges that can make living with and managing PKU difficult.

Physical & Emotional Impact

Symptoms can include mood swings, anxiety, hyperactivity, trouble focusing, fatigue, headaches, and sleep disorders. Some may also develop eating disorders.

Cognitive Impact

If treatment is delayed or if PKU is not well-controlled, it can lead to serious problems like learning disabilities, lower IQ, seizures, and behavioral issues. Experts recommend keeping Phe levels at or below 360 μmol/L throughout life.

Social Isolation & Professional Impact

Standing Out

Needing special food at work, school, or social events can feel isolating. Activities like dining out with friends or traveling can be difficult and may be avoided.

Difficulty Working

PKU can impact your ability to work. For some, physical work can be challenging, while others experience "PKU brain fog."

The PKU Diet: A Daily Challenge

Limited Options

The PKU diet is often restrictive, monotonous, and bland. Protein substitutes, necessary for nutritional balance, are often expensive.

Time-Consuming

Incorporating special nutrition into your daily life can be complicated and inconvenient.

Nutritional Challenges

Ensuring complete nutrition while following a PKU diet can be challenging, sometimes leading to indigestion and other digestive issues.

Emotional Impact

Struggling with the diet can bring feelings of guilt, embarrassment, and other negative emotions.

Imaginemore:

Living with PKU can be tough, but remember, today’s challenges don't define your tomorrow.

Imagining a New Future

At PTC Therapeutics, we’re reimagining a future where people with PKU can live more freely—by listening, learning, and sharing real stories from the community.

Meet Emma. She shares her PKU journey, advice for others, and hopes for the future.

Watch Emma’s Inspiring Story

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A Life with PKU: A Journey of Growth and Hope

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Living with PKU: A Message for Kids, Teens, and Young Adults

View video transcript

Watch Emma’s Inspiring Story

A Life with PKU: A Journey of Growth and Hope

Living with PKU: A Message for Kids, Teens, and Young Adults

View video transcript

Stay in the Loop as We Reimagine the Future of PKU—Together.

At PTC Therapeutics, we recognize the unique challenges of living with PKU, especially given the limited advancements in treatment over the past six years. We are committed to helping reimagine a new future.

Updates from Reimagine PKU

Get the latest tips, news, events, and insights from the PKU community, all in one place.

View the Latest Update

We Want to Hear From You

Stay Connected

Share Your PKU Experience!

Take our quick survey and share your experiences and opinions on managing PKU. Your insights can help improve care and support for the PKU community.

Resources for Living With PKU

Navigating life with PKU can be challenging, but no one should do it alone. Here are some organizations and resources that could help you on your journey.

National PKU Alliance
Find resources for individuals with PKU and their families. Explore comprehensive guides and support programs designed to assist with the unique challenges of PKU.
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 (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
Global Genes provides information, resources, and connections to communities affected by rare diseases.
Rare Revolution Magazine
Rare Revolution Magazine highlights rare conditions, like PKU, by sharing powerful stories, expert insights, and advocacy from the rare disease community.