Prevalence: 1/15,000 to 1/30,000 births. Autosomal recessive transmission. Anomalies of the oxidation of long-chain fatty acids at the level of the mitochondria where carnitine palmitoyl-transferases ensure their transport across the mitochondrial membrane. It is one of the most frequent causes of myoglobinuria in young adults.

There are two forms:

-         type I (CPT I): normal blood levels of carnitine, hepatosplenomegaly, sometimes renal tubulopathy

-         type II (CPT II):

- either a multisystemic form: acute cardiac and hepatic failure in the neonatal period

-        either a myopathic form: 3 clinical presentations 1) letal perinatal form  2) infantile form: muscle pains, contractures and myoglobinuria triggered by fasting, exercice and cold 3) adult form:  muscular signs after strenuous exercice

- either episodes of hypoglycemia without ketosis

CPT1 : carnitine palmityl transferase type I       

CPT2 : carnitine palmityl transferase type II              

CrAT : carnitine acyltransferase            

CACT : carnitine acylcarnitine translocase

Experimental treatment: bezafibrate (lipid-lowering agent)

Anesthetic implications: 

avoid prolonged fasting, give glucose-containing IV fluids and measure blood glucose levels. Principles of a management of a mitochondrial cytopathy. Avoid continuous infusion of propofol.  If total IV anaesthesia is required: dexmedetomidine, remifentanil, midazolam or remimazolam are preferable. In case of type II, the patients heterozygous for the mutation R503C could present a risk of metabolic reaction with rhabdomyolysis quite similar to dystrophinopathies (see Duchenne myopathy)

References :

• Neuvonen PT, van den Berg AA. 
  Postoperative coma in a child with palmitoyl-transferase I deficiency. 
  Anesth Analg 2001; 92: 646-7.
• Hogan KJ, Vladutiu GD. 
  Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. 
  Anesth Analg 2009 ; 109 : 1070-2.
•  Benca J, Hogan K. 
  Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. 
  Anesth Analg 2009; 109: 1049-53.
• Gentili A, Iannella E, Masciopinto F, Latrofa ME et al.
  Rhabdomyolysis and respiratory failure : rare presentation of carnitine palmityl-transferase II deficiency.
  Minerva Anestesiol 2008 ; 74 : 205-8.
• Rocha CT.
  Metabolic muscle disorders in infants and children.
  J Pediatr Biochemistry 2014 ; 4 : 231-248.
• Litman RS, Griggs SM, Dowling JJ, Riazi S.
  Malignant hyperthermia susceptibility and related diseases.
  Anesthesiology 2018; 129: 159-68.

Updated: February 2025