Mitochondrial Disease Clinical Pathway — Emergency Department and Inpatient

Goals and Metrics

Patient Education

Children 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

Child with Mitochondrial Disease
Presenting to Emergency Department

ED Triage

ED Team Assessment

History and Physical
- Physiologic Stressors
Evaluate
- Neurologic signs/symptoms
- Metabolic Acidosis signs/symptoms
- Acute and Chronic Symptoms of Common Pediatric Mitochondrial Diseases
- Infectious etiology
Review EHR
- Metabolism Care Coordination notes
- Mitochondrial Emergency Plan Letter
Immediate IV Access
- Consider POC glucose, BOHB
- Laboratory Studies, collect before IVF if able
- General IV Fluid Recommendations
Head imaging (Fast brain MRI or head CT) as indicated for neurologic signs/symptoms

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
Acute and Chronic Symptoms of Common Pediatric Mitochondrial Diseases

Consult Mitochondrial Medicine
Consider consult to subspecialty as indicated

Mitochondrial Medication Considerations

Avoid valproic acid and derivatives in POLG,
and mitochondrial liver disease

Treatment Considerations: ED and Inpatient
Dehydration	General IV Fluid Recommendations
Metabolic Acidosis	Correcting Metabolic Acidosis with IV Sodium Bicarbonate
Metabolic Stroke	Review, assess need for further imaging, brain MRI or head CT Consider treatment Arginine Methylprednisolone
Seizures	Avoid Valproic Acid and derivatives for POLG or mitochondrial liver disease Status Epilepticus Pathway
Migraine	Avoid Valproic Acid and derivatives for POLG and mitochondrial liver disease Migraine Headache Pathway, ED Migraine Headache Pathway, Inpatient
Liver Failure	Acetylcysteine (NAC)
Nutrition	Nutrition Recommendations Mitochondrial Medicine Regimens Assess for Refeeding Syndrome
Other Rescue Therapies	Thiamine Supplementation indications

Frequent Reassessment

VS, mental status, physical exam
Lab frequency
Ability to transition from IV fluids to enteral feeds

Admission Criteria

Admitting Service Considerations

Discharge Criteria

Posted: February 2022
Last Revised: May 2025, Revisions

Authors:
- A. Goldstein, MD;
- R. Ganetzky, MD;
- C. Christian, MD;
- B. Blowey, PharmD;
- M. Demczko, MD;
- C. Tormey, CRNP;
- J. Danzig-Silverman, MD;
- J. Belfer, MD;
- J. Driggers, RD

Editors: Clinical Pathways Team

Evidence

CHOP Programs

Mitochondrial Medicine

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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.

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Emergency Department and Inpatient Clinical Pathway for
Management of Mitochondrial Disease

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Mitochondrial Disease Clinical Pathway — Emergency Department and Inpatient

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