Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Inborn errors of metabolism (IEMs) are genetic disorders affecting cellular metabolic processes.
• While individually rare, IEMs collectively impact 1 in 1000 individuals.
• Patients are typically managed by biochemical geneticists but may require acute care outside specialized settings.

Purpose of the Study:

• To provide guidance for acute care physicians on the initial assessment and management of patients with IEMs.
• To improve early recognition and intervention for IEMs presenting with acute, life-threatening crises.
• To enhance physician comfort with managing fatty acid oxidation and carnitine disorders until specialist consultation.

Main Methods:

• This protocol outlines initial assessment and management strategies for IEMs.
• Focuses on critical interventions for acute presentations.
• Aims to bridge care gaps until biochemical geneticist consultation is obtained.

Main Results:

• Early and appropriate care for IEMs can be lifesaving.
• Familiarity with IEM presentations is critical for emergency medicine physicians, pediatricians, internists, and critical care physicians.
• The protocol serves as a supportive guide, not a replacement for expert consultation.

Conclusions:

• Acute care physicians play a vital role in the initial management of IEMs.
• Improved understanding of IEMs can lead to better patient outcomes.
• This guidance supports timely and effective care for patients with metabolic disorders.