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Glycogen storage disease due to acid maltase deficiency, infantile onset
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.
ORPHA:308552
Classification level: Subtype of disorder
- Glycogenosis type II, infantile onset
- Glycogen storage disease type II, infantile onset
- GSD type II, infantile onset
- Pompe disease, infantile onset
- Glycogenosis type 2, infantile onset
- Alpha-1,4-glucosidase acid deficiency, infantile onset
- GSD due to acid maltase deficiency, infantile onset
- GSD type 2, infantile onset
- Glycogen storage disease type 2, infantile onset
- Glycogenosis due to acid maltase deficiency, infantile onset
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Antenatal, Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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