K. A. Kirkpatrick, M. R. Bowler

Royal Manchester Children's Hospital, UK


A 20-month-old male with mitochondrial trifunctional protein deficiency (MTPD) required laparoscopic gastrostomy insertion. He had developmental delay and history of prematurity requiring ventilation. He was reviewed in the consultant pre-assessment clinic and anaesthesia plan was made in liaison with the metabolic team. He was admitted the day before surgery for bloods and commencement of glucose containing intravenous fluids. A cardiology review had taken place 10 months prior and cardiac deterioration was not expected in this time frame.

Following application of standard monitoring anaesthesia was induced with remifentanil increased to a maximum of 0.6ug/kg/min and sevoflurane to a maximum expired concentration of 2.3%. Patient state index (PSI) monitoring was applied and once less than 50 the patient was paralysed with rocuronium and intubated. PSI was used to titrate the concentration of sevoflurane and we had a suitable PSI reading with an end tidal sevoflurane concentration of 1.6% which correlates with an age adjusted MAC of 0.6. Intravenous paracetamol and morphine 75mcg/kg were given for analgesia, along with local anaesthesia infiltration. At the end of the procedure sugammadex was given and the patient extubated. 10% glucose solution had been commenced prior to induction and this continued throughout the case and the blood sugar monitored.

The patient was managed on HDU postoperatively. He required a 20ml/kg cystalloid bolus in the post-operative period but his recovery was otherwise uneventful, with normal blood gases throughout. He was stepped down to the ward the following day and discharged 2 days later.


MTPD is an autosomal recessive inborn error of long chain fatty acid (LCFAs) metabolism leading to accumulation of long chain fatty acids and the inability to use these fats as an energy source.  The condition has an heterogenous presentation including neonatal hypoglycaemia and hypotonia, cardiomyopathy, failure to thrive, peripheral neuropathy and episodic rhabdomyolysis.  Crisis can occurs with fasting or intercurrent illness causing rhabdomyolysis, acidosis and elevated creatinine kinase. The condition is managed with low LCFA diet and avoidance of triggers.

Propofol contains LCFAs and therefore commonly avoided in children with mitochondrial disorders over concerns regarding Propofol-related Infusion Syndrome. A paper by Martin et al reported the use of propofol safely for short duration although more research is required in their use. The association with rhabdomyolysis and elevated CK levels also makes volatile anaesthesia unfavourable as documented by case report in the literature of rhabdomyolysis associated with volatile anaesthesia. However, rhabdomyolysis can occur in MTPD with prolonged fasting and stress without anaesthesia. In this situation, where no agent was favourable minimising the exposure to any agent is advantageous. Together with our metabolic colleagues we chose a volatile technique and aimed to minimise the exposure using PSI monitoring and remifentanil as an adjunct.



Olpin SE, Clark S, Andresen et al. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. Journal of inherited metabolic disease.

Steinmann D, Knab J, Priebe H. Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Pediatric Anesthesia 2010;20(4):371-3

Martin JM, Gillingham MB, Harding CO. Use of propofol for short duration procedures in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiencies. Molecular Genetic and Metabolism. 2014;112(2):139-142

Makise K, Inagawa, G, Ka K. Anesthetic management in a patient with trifunctional protein deficency. Masui. 2011;60(5):628-30

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