Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to aldolase A deficiency
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.
Also known as glycogen storage disease due to aldolase A deficiency, glycogen storage disease type 12, glycogen storage disease type XII, glycogenosis due to aldolase A deficiency, glycogenosis type 12, glycogenosis type XII, GSD due to aldolase A deficiency, GSD type 12, GSD type XII — per MONDO