Deficiency in phosphoglycerate mutase 2 

[MIM 261 670]

(glycogen storage disease type X, DiMauro-Harlage disease)

Very rare. Autosomal recessive transmission of a mutation of the PGAM2 gene (7p12-p13.). This enzyme is composed of two specific subunits: one for the muscle (M) and the other for the brain (B). Normal muscle contains 95 % of MM forms. 

Described in black Americans of African origin. In muscle biopsies, frequent presence of tubular aggregates. High CPK levels.

Similar clinical presentation as McArdle's disease (see this term): no symptoms except rhabdomyolysis following an intense effort. 


Anesthetic implications: 

avoid tourniquets, external muscle compression and succinylcholine (fasciculations)


References : 

-        DiMauro S, Spiegel R. 
Progress and problems in muscle -glycogenoses. 
Acta Myologica 2011; 30: 96-102. 

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


Updated: September 2019