[MIM 612 932]

Very rare. Autosomal recessive transmission of a mutation of the ENO3 gene resulting in a deficit in muscle ß-enolase, a terminal enzyme of glycolysis. The symptoms are cramps and myalgia during exercice. CPK level is normal or low, except in case of rhabdomyolysis following exercice.

Anesthetic implications: 

it is probably prudent to avoid using a surgical tourniquet, any muscular compression (positioning), and hyperthermia. It is unclear if there is a risk of rhabdomyolysis when administering succinylcholine or a halogenated agent.

References : 

• Siciliani-Scalco R, Gardiner AR, Pitceathly RDS, Zanoteli E et al. 
  Rhabdomyolysis: a genetic perspective. 
  Orphanet J Rare Dis 2015; 10: 51.

Updated: April 2019