glycogen storage disease due to aldolase A 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.
MONDO:0002412
disorder of glycogen metabolism
excluded_subClassOf
MONDO:0003689
familial hemolytic anemia
is_a
MONDO:0017688
disorder of glycolysis
is_a
MONDO:0020585
anemia due to erythrocyte enzyme disorder
is_a
GSD due to aldolase A deficiency
exact
GSD type 12
exact
GSD type XII
exact
GSD12
related
aldolase deficiency red cell
related
glycogen storage disease 12
related
glycogen storage disease XII
related
glycogen storage disease due to aldolase A deficiency
exact
glycogen storage disease type 12
exact
glycogen storage disease type XII
exact
glycogenosis due to aldolase A deficiency
exact
glycogenosis type 12
exact
glycogenosis type XII
exact