Sign in or register to access exclusive content on this site
REGISTER

Home | Metabolism | Phenylketonuria (PKU) | Resources | Video: PKU sepiapterin mechanism of action

Video: PKU sepiapterin mechanism of action

Gain an overview of sepiapterin’s distinct dual mechanism of action in phenylketonuria (PKU), highlighting how it increases phenylalanine hydroxylase (PAH) function and improves conversion of phenylalanine (Phe) to tyrosine (Tyr).

  • Learn more about PKU pathophysiology, where PAH variants can reduce Phe metabolism, and the role of tetrahydrobiopterin (BH4) as a critical cofactor and pharmacological chaperone required for normal PAH enzymatic function and stability
  • Understand how sepiapterin works within cells – it crosses cell membranes efficiently, has a unique, independent pharmacological chaperone effect that helps correct misfolded PAH and stabilizes PAH against degradation, and is also converted intracellularly to BH4
  • Recognize the downstream effect of this dual mechanism, resulting in increased PAH activity
▼ Sepiapterin is subject to additional monitoring. This will allow quick identification of new safety information. Healthcare professionals are asked to report any suspected adverse reactions via the national reporting system. Adverse events should also be reported to PTC Therapeutics at pharmacovigilance@ptcbio.com.

Registration conditions differ internationally; always consult local prescribing information and/or Summary of Product Characteristics before prescribing any products.

MED-ALL-PTC923-2500012 | September 2025

This video was developed and funded by PTC Therapeutics.

Thank you!

Already registered?

Registration
* indicates a required field
  • This Website is intended only for healthcare professionals (“Website“), is operated by PTC Therapeutics. (together with its affiliates “PTC”). In order to access the restricted content on this Website:

    *
    *
  • PTC will delete immediately the information provided if we cannot confirm you are a healthcare professional.
    Otherwise, in case of successful verification, PTC will retain the information provided for a period of two (2) years following your registration (i) only for the purposes of providing you access to this Website; and/or (ii) in case you signed up to receive PTC updates.

Providing your personal data and your consent is voluntary, and you have the right to withdraw your consent at any time, without giving any reasons. Please consult our Privacy Statement for more information on the processing of your personal data.
For any inquiry relating to the processing of your personal data or if you want to exercise your privacy related rights or withdraw your consent, you can contact PTC’s Privacy Office at: Dataprivacy@ptcbio.com.

You can unsubscribe from updates at any time when receiving an email from PTC.

MED-ALL-PKU-2600101 | May 2026

Welcome to MEDhub

A website for healthcare professionals, provided by PTC Therapeutics

This educational website provides you with the latest scientific data and expert insights on the diagnosis and management of a range of rare diseases across the neuromuscular system, central nervous system, and other areas

This website may include scientific information about investigational and unlicensed products not approved for use within your country. Please refer to local regulatory guidance for country-specific information

© 2025 PTC Therapeutics. All rights reserved | MED-ALL-CORP-2200029 | June 2025

This content is protected.

To view it please enter your email address below:

Register here to access the content on the site

MED-ALL-CORP-2200029 | June 2025

COMING SOON

The content you are trying to access is not currently available.

We will be updating the MEDhub site regularly to provide you with up-to-date, insightful expert-led content. To be notified when new additions become available, register now.