Think Ammonia: The Survey

Poster Abstract: Jonathan Gibson, Campaigns & Communications Lead, Metabolic Support UK

Abstract

Background: Hyperammonaemia is a life-threatening condition associated with inherited metabolic disorders (IMDs) and requires urgent recognition and intervention. Delays in diagnosis and treatment can result in severe long-term consequences, including neurological damage and death. The "Think Ammonia!" campaign, launched by Metabolic Support UK (MSUK), aims to improve awareness, advocate for best practices, and support earlier diagnosis and treatment.

Methods: MSUK conducted an online survey to gather insights from individuals with IMDs and their caregivers regarding their experiences with hyperammonaemia diagnosis and treatment. The survey was distributed via social media, the MSUK website, and direct outreach. Questions were focused on staff awareness, testing timelines, communication, and long-term health impacts. Data was analysed by the MSUK team.

Results: The survey included 34 respondents (85% caregivers, 15% individuals with IMDs). A total of 92% reported inadequate staff awareness of hyperammonaemia signs, 62% experienced delays in ammonia level testing, and 65% reported long-term physical effects from delayed treatment, with 92% of these being neurological. Additionally, 43% didn’t felt listened to by healthcare professionals, highlighting significant communication barriers.

Conclusions: These findings demonstrate critical gaps in hyperammonaemia management, reinforcing the need for improved clinician training, earlier testing, and clearer communication. The "Think Ammonia!" campaign provides healthcare professionals with essential resources to address these challenges. Implementing targeted education and awareness initiatives could improve early recognition and treatment, reducing long-term complications.