Mitochondrial Disease Clinical Pathway – Emergency Department and Inpatient – Medication Considerations

Mitochondrial Disease Clinical Pathway – Emergency Department and Inpatient

Medication Considerations

  • In general, there are no strict contraindications for children with mitochondrial disease with most medications
  • Conversation regarding individualized risk-benefit of antibiotics, systemic steroids, fluid preferences and anesthesia is needed for all children with mitochondrial disease

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
Dosing
  • 500 mg/kg infusion administered over 60-90 mins
  • May be given daily for up to 5 days
  • May stop sooner if neurologic symptoms resolve
Contraindications
Side Effects
  • 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
  • If side effects develop, lower infusion rate

Methylprednisolone IV

Indications Confirmed new stroke-like episode with vasogenic edema on MRI
Dosing
  • 30 mg/kg/day, Max 1,000 mg per day for 3-5 days
  • No taper
  • If on steroids for adrenal insufficiency, review with endocrine
Side Effects
  • Hyperglycemia
    • Continue dextrose, add insulin as indicated
  • Lactate elevation
  • HTN
  • Behavioral changes
  • Insomnia

Acetylcysteine (NAC), IV

Indications
  • Elevation of liver enzymes, ammonia, lactate > 20
  • History of mitochondrial hepatopathy
Dosing
  • Loading dose 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/hr)
  • 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/hr until clear evidence of organ recovery (i.e., downward trend of ALT/AST with improvement in synthetic function).
Monitoring
  • Obtain glutathione level pre and post-acetylcysteine infusion
  • Do not wait for lab to return to start therapy
Administration
  • Cardiorespiratory monitoring required throughout infusion
  • VS q15min during loading dose with provider at bedside for first 10 mins
  • Q2hr for second dose
  • Q4hr for all subsequent doses

Thiamine, IV

Indications
  • Pyruvate Dehydrogenase Deficiency (PDH)
  • Severe lactic acidosis
Dosing 100 mg/day