DMIMD 2025 - Challenges in Tyrosinaemia Type 1

An insightful talk presented by Dr. Roshi Vara on the challenges and management of Tyrosinemia type 1. This session covers the latest advancements and best practices in the field, providing valuable information for both paediatric and adult cases.

Key topics include:

• Background and clinical manifestations: understanding the history and presentation of Tyrosinemia 1;
• Diagnosis and treatment: learning about diagnostic markers, genetic confirmation, and the impact of early intervention with NTBC and dietary treatment on patient survival and quality of life;
• Long-term management: outlining the aims of long-term management, including growth and development monitoring, blood spot testing, and maintaining optimal tyrosine and NTBC levels. Discussing the challenges of adherence and the neurocognitive outcomes associated with Tyrosinemia 1;
• Case studies: featuring detailed cases, providing valuable insights into real-world challenges and successes.