Glycogen storage disease due to aldolase A deficiency
ORPHA:57· ICD-10 E74.0
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal