Glycogen storage disease due to acid maltase deficiency, infantile onset
ORPHA:308552· ICD-10 E74.0
Definition
Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal