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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
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MED-US-CORP-2500008 | November 2025

This video was developed and funded by PTC Therapeutics.

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