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glycogen storage disease due to aldolase A deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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 (triggerd by fever) without hemolytic anemia has recently been reported.
Uniprot Description A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.
Mondo Term and Equivalent IDs
MONDO:0012747:  glycogen storage disease due to aldolase A deficiency
GARD:0000600: 
MESH:C562718: 
Orphanet:57: 
SCTID:111578003: 
UMLS:C0272066: