Mitochondrial diseases are a diverse group of inherited disorders characterised by dysfunction of the mitochondrial respiratory chain, resulting in impaired cellular energy production.

These conditions frequently affect multiple organ systems and can present significant challenges in the Emergency Department. Evidence to guide management remains limited, particularly for specific complications, and specialist advice is often required.

Key principles for emergency care:

• Listen to patients and their families. They often have extensive knowledge of their condition, previous complications and treatments that have worked or should be avoided.
• Read the patient’s individual care plan and relevant NHS guidance. These may contain important information about emergency management, medication precautions and interventions to avoid.
• Contact the patient’s usual clinical or specialist team for advice. Early discussion can help guide safe, individualised management, particularly when dealing with unfamiliar presentations or complex multisystem disease.