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.

Also known as: GSD due to phosphoglycerate mutase deficiency, GSD type 10, PGAM2 glycogen storage disease, glycogen storage disease caused by mutation in PGAM2, glycogen storage disease type 10, glycogenosis due to phosphoglycerate mutase deficiency, muscle phosphoglycerate mutase deficiency, myopathy due to phosphoglycerate mutase deficiency

3 clinical trials for this condition and its sub-types, 1 tagged with Glycogen storage disease due to phosphoglycerate mutase deficiency itself.