[MIM 611 881]

Very rare. Autosomal recessive transmission of a mutation of the ALDOA gene that causes a deficiency in the isoform A of aldolase that transforms fructose 1,6 bisphosphate into dihydroacetone and glyceraldehyde-3-phosphate. The mutation

alters glycolysis in muscles and red blood cells. 

Clinical picture:

-         non-spherocytic hemolytic anemia

-         infrequent muscle manifestations: high CPK levels, muscle pain, weakness, poor exercise tolerance. Occasionally rhabdomyolysis in case of infection or fever.

Anesthetic implications: 

check hemoglobin levels; it is probably prudent to avoid using a surgical tourniquet, any muscular compression (positioning) and prevent hyperthermia. It is unclear whether 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