Nutrition from a Metabolic Perspective: Creating a Clinical Guidebook on Inborn Errors of Metabolism (IEM) at UVA Health

Abstract

Inborn errors of metabolism (IEM) are rare but potentially life-threatening genetic conditions that often present in nonspecific symptoms, making timely diagnosis and interventions challenging in the acute setting. Delayed or inappropriate treatment can result in severe complications and death. This project aimed to develop a comprehensive guidebook on IEM specific to University of Virginia (UVA) Health, a level I trauma center located in Charlottesville, Virginia, including contact information to the UVA Health Genetics team, symptom-based and biochemical diagnostic criteria, initial investigations, treatments of IEM, and background information on IEM, including pathophysiology, subgroups, and newborn screening. UVA Health includes a Children’s Hospital with a pediatric genetics team, one of three in the state of Virginia. The primary goals were to improve the timeliness and accuracy of diagnoses, standardize initial management protocols, and enhance clinician awareness of IEMs across all departments. When compared to other institutions’ guidebooks on IEM, the UVA Health guidebook includes similar information but with a more efficient design with charts, diagrams, and ordering of pertinent information. The guidebook was also compared to patient charts with delayed diagnosis of metabolism disorders, and the guidebook had pertinent and relevant criteria and processes. The creation of the IEM Guidebook at UVA Health can serve as a tool for streamlining patient care, supporting faster and safer clinical decision making, and raise institutional awareness of the critical nature of IEM.