Non-cirrhotic hyperammonemia and adult-onset metabolic disorders: under-recognised presentation among emergency clinicians

Non-cirrhotic hyperammonemia is an under-recognized cause of altered mental status in the ED, associated with high morbidity and mortality. Inherited metabolic diseases are a significant but often overlooked cause due to the misconception that they are primarily pediatric conditions. Their clinical heterogeneity in adults and resemblance to more common conditions pose diagnostic challenges. However, increased awareness of inherited metabolic diseases can help identify atypical features of the common conditions they mimic leading to early diagnosis and treatment which can have life-changing implications to the patient.