Glycogen storage disease type 12
Other Names: GSD12; Glycogen storage disease 12; Aldolase A deficiency; Red cell aldolase deficiency; Aldolase deficiency red cell; Aldoa deficiency
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.
NIH genetic and rare disease info[edit]
Glycogen storage disease type 12 is a rare disease.
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Rare diseases - Glycogen storage disease type 12
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