Carnitine palmitoyl-transferase, deficiency in

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 pain, contractures and myoglobinuria triggered by fasting and exercice  3) adult form:  muscular signs after strenuous exercice

- either episodes of hypoglycemia without ketosis

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. in case of type II, the heterozygous patients  for the mutation R503C could present a risk of metabolic reaction with rhabdomyolysis quite similar to dystrophinopathies (see Duchenne myopathy)

References :

Updated: January 2018