label: glycogen storage disease due to phosphoglycerate mutase deficiency
label_lc: glycogen storage disease due to phosphoglycerate mutase deficiency
description: 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.