Am Surg. 2025 Nov 23:31348251403079. doi: 10.1177/00031348251403079. Online ahead of print.
ABSTRACT
Inherited metabolic disorders (IMDs) are a heterogeneous group of rare single-gene disorders caused by enzyme defects that disrupt biochemical and metabolic pathways. Acute metabolic decompensation is a medical emergency that can be fatal if untreated. It can be triggered by catabolic stressors such as fasting, infection, surgery, pain, bleeding, or exposure to anesthetic agents. Traumatic injury in particular can precipitate IMD life-threatening crises. The risks of complicating surgical interventions can be reduced by careful perioperative management of fluids, nutrition, and medications under the guidance of a biochemical genetics specialist. Management of IMD metabolic emergencies is often complex, and trauma and surgical providers may only have limited access to specific protocols. Without prompt recognition and treatment, patients with IMDs are at high risk of poor outcomes in trauma or surgical settings. Optimal management requires early consultation with a metabolic specialist and a coordinated multidisciplinary team. This review highlights key principles and resources to enhance recognition and management of IMD metabolic crises for trauma and surgical teams.
PMID:41275486 | DOI:10.1177/00031348251403079
