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Glycogen storage disease due to aldolase A deficiency
rareGlycogen 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.
- Identifiers
- MONDO:0012747 OMIM:611881Orphanet:57
- Causal genes
- ALDOA
- Also known as
- aldolase deficiency red cell · glycogen storage disease 12 · glycogen storage disease type 12 · glycogen storage disease type XII · glycogen storage disease XII
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