SCCM Pod-466: Hyperammonemia, the Silent Killer

Hyperammonemia, particularly when stemming from urea cycle disorders (UCDs), requires immediate clinical suspicion in critical care settings to prevent irreversible neurologic injury, coma, or death. Because symptoms like lethargy, vomiting, and altered mental status are non-specific, clinicians frequently misattribute these signs to more common conditions such as sepsis or intoxication. Rapid diagnosis necessitates prompt plasma ammonia testing, with samples transported on ice to avoid false elevations. Patient experiences, such as those of individuals with Ornithine Transcarbamylase (OTC) deficiency, underscore the critical need for established emergency protocols, including medical alert identification and strict dietary protein management. Effective long-term prognosis relies on early recognition, collaboration with metabolic geneticists, and the utilization of specialized resources like the National Urea Cycle Disorders Foundation to guide acute management and ongoing care.