How Sepiapterin Treats Phenylketonuria (PKU) | Pharmacology Explained

Sepiapterin, recently FDA-approved under the brand name Sephience, is offering new hope for individuals with phenylketonuria (PKU)—a rare metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency. In this video, we explain
• What causes PKU and why it’s dangerous
• Why diet therapy alone isn’t enough
• How sepiapterin helps restore PAH activity
• Key findings from the APHENITY trial.
This video is perfect for pharmacology students, early-career healthcare professionals, or anyone curious about metabolic disorders and modern treatments.

Disclaimer: This YouTube video is not intended to provide diagnosis, treatment, or medical advice. The content provided in this video is for informational purposes only. Please consult with a physician or other healthcare professional regarding any medical or health-related diagnosis or treatment options. Information on this video should not be considered as a substitute for advice from a healthcare professional. The statements made about specific products are not to diagnose, treat, cure, or prevent disease.

References:
1. Stone WL, Basit H, Los E. Phenylketonuria. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NB...
2. van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Beblo, S., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., & van Spronsen, F. J. (2025). European guidelines on diagnosis and treatment of phenylketonuria: First revision. Molecular genetics and metabolism, 145(2), 109125. https://doi.org/10.1016/j.ymgme.2025....
3. PTC Therapeutics. PTC Therapeutics Announces FDA Approval of Sephience™ (sepiapterin) for the Treatment of Children and Adults Living with Phenylketonuria (PKU). News Release. Released July 28, 2025. Accessed July 28, 2025. https://ir.ptcbio.com/news-releases/n...
4. PTC Therapeutics. PTC Therapeutics Presents New Sepiapterin Data from Ongoing Studies. News Release. Released March 20, 2025. Accessed July 28, 2025. https://ir.ptcbio.com/news-releases/n...
5. https://hcp.biomarin.com/en-us/pku/ov...

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