/glycogen storage disease due to phosphoglycerate mutase deficiency

glycogen storage disease due to phosphoglycerate mutase deficiency

Rare Disease

MONDO:0009865

Also Known As

GSD due to phosphoglycerate mutase deficiencyGSD type 10PGAM2 glycogen storage diseaseglycogen storage disease caused by mutation in PGAM2glycogen storage disease type 10glycogenosis due to phosphoglycerate mutase deficiencymuscle phosphoglycerate mutase deficiencymyopathy due to phosphoglycerate mutase deficiencyGSD 10GSD10GSDXPGAM deficiencyPGAMM deficiencyPhosphoglycerate mutase deficiencyPhosphoglycerate mutase, muscle, deficiency ofglycogen storage disease 10glycogen storage disease Xmyopathy 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.