/glycogen storage disease due to aldolase A deficiency

glycogen storage disease due to aldolase A deficiency

Rare Disease

MONDO:0012747

Also Known As

GSD due to aldolase A deficiencyGSD type 12GSD type XIIglycogen storage disease due to aldolase A deficiencyglycogen storage disease type 12glycogen storage disease type XIIglycogenosis due to aldolase A deficiencyglycogenosis type 12glycogenosis type XIIAldoa deficiencyGSD 12GSD12Red cell aldolase deficiencyaldolase a deficiencyaldolase deficiency red cellaldolase deficiency, Red cellglycogen storage disease 12glycogen storage disease XII

Definition

Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.