Deficiency in phosphoglycerate mutase 2
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(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