What is Phenylketonuria (PKU)?

PKU is a genetic disorder characterized by the body’s inability to break down an amino acid called phenylalanine (Phe). When we consume high-protein foods, the body breaks it down into smaller components like amino acids.
In people with PKU, the body has trouble processing Phe properly, causing it to build up in the blood—which can lead to irreversible brain damage and other serious health problems.

Every person with PKU has a story.

Understanding what’s happening in the body is just the beginning.

When Phe Builds Up, So Can the Challenges

Keeping Phe levels in range isn’t always easy, even with a strict PKU diet. But staying on target matters. Persistently high Phe levels can affect how you think, feel, and function, impacting emotional well-being, mental clarity, and physical health. That’s why lifelong Phe management is essential. SEPHIENCE may help when Phe levels are hard to manage.

What’s it called when Phe is high?
It’s called hyperphenylalaninemia—when too much Phe builds up in the blood.

What’s the recommended Phe range?
Experts recommend keeping Phe ≤360 µmol/L (≤6 mg/dL) for lifelong brain health.

Persistent High Phe Levels Can Affect How You Think and Feel

Neurotransmitters are messengers that send signals from nerve cells in the brain to other parts of the body. 
High blood Phe levels can cause imbalances in neurotransmitters, such as dopamine and serotonin, which can impact mood, emotions, motor skills, memory, and other important functions.

Everyday challenges
When Phe levels are high, anxiety, depression, and brain fog can occur, making it challenging to manage PKU.

Impact on your mind and body
People with PKU may feel moody, anxious, hyperactive, or unusually tired. They can also have headaches, difficulty paying attention, and trouble sleeping. Some may also develop eating disorders.

Long-term impact
Don’t wait to treat PKU. If Phe levels are not well controlled, serious problems can occur, like learning disabilities, lower IQ, seizures, and behavioral issues.

The Role of Diet

Experts agree—diet matters. But for some, diet alone isn’t enough. That’s why lifelong treatment, alongside diet, plays an important role in keeping Phe levels in range and protecting your health.

SEPHIENCE may help you aim for better balance. With effective Phe management, SEPHIENCE can support your daily life, allowing you to focus on what’s important.

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