Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
ORPHA:263297· ICD-10 E74.0
Definition
A rare autosomal recessive glycogen storage disease characterized by severe cardiomyopathy and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood