[MIM 300 653]

(glycogen storage disease type IX)

Very rare. X-linked transmission of a mutation of the PGK1 gene (Xq13). This enzyme is present in all tissues. The clinical presentation depends on the importance of the tissular deficiency.The following impairments can be found either isolated or in association:

-         red cells: hemolytic anemia

-         striated muscles: intolerance to effort, cramps, myoglobinuria. Sometimes, rhabdomyolysis

-         central nervous system: seizures, mental retardation, ataxia, hemiplegic migraines; sometimes juvenile parkinson

Only a small number of patients present with all three major symptoms (hemolytic anemia, neurologic problems and myopathy). Several cases of deficiency in PGK with a myopathy but without hemolytic anemia have been reported.

Anesthetic implications: 

check hemoglobin, avoid tourniquets and muscle compression (! positioning on the table).

References : 

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

-        Rocha CT.
Metabolic muscle disorders in infants and children.
J Pediatr Biochemistry 2014 ; 4 : 231-248.

Updated: June 2017