Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Area of Science:

• Mitochondrial Medicine
• Neuro-ophthalmology
• Critical Care Medicine

Background:

• Propofol is a common anesthetic agent, but its use can lead to Propofol Infusion Syndrome (PRIS), a serious complication.
• Mitochondrial dysfunction is a suspected cause of PRIS.
• Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial disease.

Observation:

• This report details an adult patient with LHON, a known mitochondrial disorder, who developed PRIS.
• The patient carried the m.3460G>A mutation, a common cause of LHON.
• The patient received propofol for sedation following a head injury and subsequently died.

Findings:

• The patient exhibited severe deficiency in Complex I activity of the oxidative phosphorylation (OXPHOS) system in skeletal muscle.
• This finding suggests an inborn error of metabolism affecting mitochondrial function.

Implications:

• This case demonstrates that severe PRIS can occur in adults with pre-existing OXPHOS defects.
• The findings support the hypothesis that PRIS results from the inhibition of the OXPHOS system.
• Clinicians should consider underlying mitochondrial disorders in patients developing PRIS, particularly those with neurological or metabolic symptoms.