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Home | Metabolism | Phenylketonuria (PKU) | Congress activities | The Society for the Study of Inborn Errors of Metabolism (SSIEM) | SSIEM 2026 poster: Redefining the number of true null PAH variants in PKU and sepiapterin response​

SSIEM 2026 poster: Redefining the number of true null PAH variants in PKU and sepiapterin response​

This poster, presented at SSIEM 2026, discusses null PAH variants in individuals with phenylketonuria (PKU) and their association with disease severity and treatment response

  • Understand the prevalence and distribution of null variants in PAH among individuals with PKU
  • Determine the relationship between null PAH variants, disease severity, and response to sepiapterin
  • Review how genetic and biochemical data may support a more informed treatment assessment in PKU
▼ 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 poster was developed and funded by PTC Therapeutics for SSIEM.

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MED-ALL-PKU-2600169 | September 2026

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