Welcome to our research highlight on “Think Ammonia! The Survey”, presented by Metabolic Support.

Hyperammonaemia is a time sensitive medical emergency for individuals living with inherited metabolic disorders (IMDs). Reports dating back several years show that patients have experienced disability or even death due to hyperammonaemia not being recognised, tested, and treated rapidly.

To inform the Metabolic Support “Think Ammonia!” campaign, this study surveyed patients and parents/carers across eight IMDs to understand our community’s lived experience of hyperammonaemia. The findings reveal widespread challenges—including 92% reporting inadequate staff awareness of hyperammonaemia signs, significant testing delays, and 65% experiencing long-term physical effects (predominantly neurological) due to delayed recognition. These results highlight the urgent need to improve staff education, testing processes, and treatment urgency to better outcomes for hyperammonaemia.

The poster below summarises the results of this survey: