Glycogen storage disease due to phosphoglycerate mutase deficiency
Glycogen storage disease due to phosphoglycerate mutase deficiency
Definition
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 glycogen storage disease caused by mutation in PGAM2, glycogen storage disease type 10, glycogenosis due to phosphoglycerate mutase deficiency, GSD due to phosphoglycerate mutase deficiency, GSD type 10, muscle phosphoglycerate mutase deficiency, myopathy due to phosphoglycerate mutase deficiency, PGAM2 glycogen storage disease — per MONDO