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Up to: Disorder of glycogen metabolism · Disorder of glycolysis
Glycogen storage disease due to phosphoglycerate mutase deficiency
A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.
This condition has no sub-types.