Management of Mitochondrial Disease — Medication Considerations — Clinical Pathway: Emergency Department and Inpatient

Mitochondrial Disease Clinical Pathway — Emergency Department and Inpatient

Medication Considerations

Consult the Mitochondrial Team regarding administration of any of the following to patients with mitochondrial disease. Timely administration is important.

Arginine HCL, IV
    Indications: Concern for:
    Acute metabolic stroke (AMS or difference from neuro baseline)
    New stroke on imaging, stroke like symptoms
    Worsening seizures, status epilepticus
    Dose: 500 mg/kg IV infusion administered over 60-90 minutes
    May be given daily for up to 5 days
    May stop sooner if neurologic symptoms resolve
    If arginine included in outpatient treatment regimen, discontinue it
    Administration: Arginine   is an irritant
    Central line preferred but can be administered peripherally
    Refer to formulary for infusion times  
    The rate does depend on indication
    Contraindications: Known Intracranial hemorrhage
    Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes
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  • Side effects of IV arginine include:
    • Hypotension Monitor blood pressure every 30 min while arginine is infusing
    Hypoglycemia Check POC glucose for any MS change
    Metabolic acidosis Specific monitoring is not necessary
    Use with caution in patients who have acidosis
    Headache Check BP if HA develops, treat symptomatically
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  • If side effects develop, a slower rate of infusion may be beneficial.
IV steroids
(Solumedrol Pulse Dose)
    Indications: Confirmed new stroke-like episode with vasogenic edema on MRI
    Dose: 30 mg/kg/day (max 1,000 mg per day) x 3-5 days (no taper)
    Exceptions include those on steroids for adrenal insufficiency, check with endocrine
    Side effects: Hyperglycemia (continue dextrose, add insulin as indicated)
    Lactate may increase; if associated with metabolic acidosis, refer to Treating Metabolic Acidosis)
    HTN, behavioral changes, insomnia
Acetylcysteine (NAC)
    Indications: Mitochondrial Medicine Team will recommend if NAC indicated
    Elevation of liver enzymes, ammonia, lactate > 20
    History of mitochondrial hepatopathy
    Monitoring: Obtain glutathione level pre and post acetylcysteine infusion
    Do not wait for lab to return to start therapy
    Dose: IV Loading Dose:
    IV Maintenance Dose:
    IV Extended Treatment:    		 200 mg/kg (max 20,000 mg) infused over 5 hours; followed by
    100 mg/kg (max 10,000 mg) infused over 16 hours (6.25 mg/kg/hour)
    See below comment
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  • Duration of therapy may be continued past 21 hours if hepatocellular injury is present. Children requiring extended treatment should be ordered for a continuous IV infusion at a rate of 6.25 mg/kg/hour until clear evidence of organ recovery (i.e., downward trend of ALT/AST with improvement in synthetic function)
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    • Administration: Cardiorespiratory monitoring required throughout infusion.
    VS Q15 minutes during loading dose with provider at bedside for first 10 minutes
    Q2 hours for second dose
    Q4 for all subsequent doses
IV Thiamine Supplementation
    Indications: PDH, genetically undiagnosed Leigh syndrome, severe lactic acidosis
    Dose: Thiamine 100mg/day IV