Emergency Department and Inpatient Mitochondrial Clinical Pathway

Clinical Pathways Home Emergency ICU Inpatient Outpatient Specialty Care Primary Care

Goals and Metrics

Provider Resources

Patient with Mitochondrial Disease

ED Triage

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.

FLOC/RN Team Assessment
- History & Physical
- Physiologic Stressors
Assess for
- Neurologic Signs/Symptoms
- Metabolic Acidosis Signs/Symptoms
Review EHR
- Metabolism Care Coordination notes
- ED Patient Letter
Immediate IV Access
- Consider POC glucose, BOHB, VBG
- Laboratory Studies, collect before IVF if able
- Initial IVF Recommendations
Screening brain MRI or head CT
- As indicated for AMS, seizures, focal findings
Evaluate for infectious etiology as clinically indicated

Neurologic Signs/Symptoms
- Neurologic regression
- Altered Mental Status
- Seizures
- Metabolic stroke
  - Increased weakness
  - Focal neurologic findings
Metabolic Acidosis Signs/Symptoms
- Hyperpnea
- Altered Mental Status
- Bradycardia, arrhythmia
- Hypotension
- Anorexia
- Vomiting
Common Pediatric Mitochondrial Diseases: Acute and Chronic Symptoms

Consult Mitochondrial Medicine
Consider consult to specialty based on symptoms at presentation

Treatment Considerations: ED and Inpatient
Dehydration	Ongoing Fluid Management IVF Management, glucose
Metabolic Acidosis	Treating Metabolic Acidosis Sodium Bicarbonate Therapy
Metabolic Stroke	Review, assess need for further imaging, brain MRI or head CT Consider Treatment - Arginine, steroids
Seizures	Avoid Valproic Acid and Derivatives Pathway, Status Epilepticus
Migraine	Avoid Valproic Acid and Derivatives Migraine Headache, ED Migraine Headache, Inpatient
Liver Failure	Acetylcysteine (NAC)
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 Criteria

Admission Service Guidance
- General Pediatrics, Complex Care, Neurology or PICU
Considerations for Telemetry if cardiac arrhythmia
Treatment Considerations
Ongoing Management

Discharge Criteria

Baseline Neurologic status
Tolerating enteral feeds, home medications
Instructions, Follow-up

Posted: February 2022
Last Revised: November 2024

Authors:
- A. Goldstein, MD;
- R. Ganetzky, MD;
- J. Lavelle, MD;
- C. Christian, MD;
- J. Hart, MD;
- B. Ku, MD;
- B. Heuer, CRNP;
- B. Blowey, PharmD

Editors: Clinical Pathways Team

Evidence

CHOP Programs

Mitochondrial Medicine

If you have questions about any of the clinical pathways or about the process of creating a clinical pathway please contact us.

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The clinical pathways are based upon publicly available medical evidence and/or a consensus of medical practitioners at The Children’s Hospital of Philadelphia (“CHOP”) and are current at the time of publication. These clinical pathways are intended to be a guide for practitioners and may need to be adapted for each specific patient based on the practitioner’s professional judgment, consideration of any unique circumstances, the needs of each patient and their family, and/or the availability of various resources at the health care institution where the patient is located.

Accordingly, these clinical pathways are not intended to constitute medical advice or treatment, or to create a doctor-patient relationship between/among The Children’s Hospital of Philadelphia (“CHOP”), its physicians and the individual patients in question. CHOP does not represent or warrant that the clinical pathways are in every respect accurate or complete, or that one or more of them apply to a particular patient or medical condition. CHOP is not responsible for any errors or omissions in the clinical pathways, or for any outcomes a patient might experience where a clinician consulted one or more such pathways in connection with providing care for that patient.

Emergency Department and Inpatient Clinical Pathway for Management of Mitochondrial Disease

Evidence

CHOP Programs

Emergency Department and Inpatient Clinical Pathway for
Management of Mitochondrial Disease