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Glycogen storage disease due to acid maltase deficiency
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.
ORPHA:365
Classification level: Disorder
- Alpha-1,4-glucosidase acid deficiency
- GSD due to acid maltase deficiency
- GSD type 2
- Glycogen storage disease type 2
- Glycogenosis due to acid maltase deficiency
- Glycogenosis type 2
- Pompe disease
- GSD type II
- Glycogen storage disease type II
- Glycogenosis type II
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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