20/09/2025
📢 New in JIMD: Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines
Allysa Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner-Fokkema, francjan van spronsen, and the TT1 MetabERN Professional Collaboration Group
Read here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.70089
Nitisinone (NTBC) and newborn screening have transformed outcomes for patients with Tyrosinemia type 1 (TT1), shifting care from emergency treatment to long-term management. But how consistent is practice across Europe?
🔍 A new MetabERN survey of 32 centers across 16 countries shows:
Consistency: universal use of NTBC + Tyr/Phe-restricted diet; routine AFP and imaging for liver surveillance.
Progress since 2014: more newborns detected by screening, lower NTBC dosing, greater attention to neurocognition.
Variation remains: dosing schedules, target biochemical ranges, frequency of follow-up, and monitoring methods differ widely.
📌 The findings highlight the need for harmonised European guidance to ensure equity of care for TT1 patients.