Glycogen storage disease due to glycogen branching enzyme deficiency
ORPHA:367· ICD-10 E74.0
Definition
A rare form of glycogen storage disease characterized by a continuum of clinical manifestations of variable presentation and severity, involving hepatic, neuromuscular and/or cardiac symptoms.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- All ages