What is hyperammonaemia?

Having hyperammonaemia means that ammonia levels in the blood are higher than they should be and this can be extremely dangerous, potentially leading to disability or death. This state can be caused by a wide variety of conditions but is of particular concern to communities living with Urea Cycle Disorders as these conditions mean the body cannot properly break down ammonia.

Spot the symptoms

In March 2018, we were extremely saddened by the death of Elliot Peters, 14, who became suddenly and seriously ill before being diagnosed with Ornithine transcarbamylase (OTC) deficiency. His mum, Holly, is dedicated to speaking out about Elliot’s story to raise awareness and prevent more deaths.

Elliot was a normal, healthy teenager and had shown no signs of the underlying Inherited Metabolic Disorder that would go on to cause toxic levels of ammonia in his blood. He had felt unwell over the weekend but appeared to be feeling much better by the Sunday evening. The next morning, things changed very quickly; he was staggering, disoriented and unable to answer questions. Holly called 999 and paramedics initially thought Elliot was having a stroke

Unbeknownst to the family and medical professionals, Elliot’s symptoms were caused by hyperammonaemia (a dangerously high build-up of ammonia in his blood). As they were unaware of the underlying cause, Ornithine transcarbamylase (OTC) deficiency, this was not something for which the hospital team were looking. Tragically for Elliot and his family, his diagnosis came too late.

Holly’s quest for answers about why ammonia testing isn’t routinely considered for patients presenting with these symptoms led her to contact her local MP, Kemi Badenoch. Holly said: “My MP was so compassionate and brought Elliot’s story to Theresa May’s attention in Parliament. The Prime Minister agreed for a Minister from the Department of Health and Social Care to meet with us!”

Holly and her husband, Andy, along with our previous Chief Executive, Lindsay Weaver attended a meeting in Parliament with Stephen Hammond MP, Minister of State at the Department for Health and Social Care to discuss the current diagnosis and management of hyperammonaemia in hospitals. Mr Hammond agreed to contact the NHS to discuss if changes can be made so that ammonia levels are checked when someone presents with the symptoms that Elliot did. Holly has also contacted 200 NHS trusts to share Elliot’s story.