Emergency Department and Inpatient Clinical Pathway for
Management of Mitochondrial Disease

  • Patients with mitochondrial disease are at risk for multisystem organ decompensation that can progress rapidly when exposed to
    physiologic stressors.
    Closely monitor respiratory, neurologic status and treat metabolic acidosis.
  • Consult Mitochondrial Medicine
  • Consider consult to specialty based on symptoms at presentation
Treatment Considerations: ED and Inpatient
Metabolic Acidosis
Metabolic Stroke
  • Review, assess need for further imaging, brain MRI or head CT
  • Consider Treatment - Arginine, steroids
Liver Failure
Review Indications for Thiamine Supplementation
  • Additional Subspecialty Consultation as clinically indicated for other system management
Frequent Reassessment
  • VS, Mental Status, Physical Exam
  • Lab Results, Reassess testing schedule
  • Ability to transition from IV fluids to enteral feeds
  • Admission Service Guidance
    • General Pediatrics, Complex Care, Neurology or PICU
  • Considerations for Telemetry if cardiac arrhythmia
  • Treatment Considerations
  • Ongoing Management
  • Baseline Neurologic status
  • Tolerating enteral feeds, home medications
  • Instructions, Follow-up
Posted: February 2022
Revised: March 2024
Editors: Clinical Pathways Team