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Glycogen storage disease due to acid maltase deficiency, infantile onset
rareGlycogen 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.
- Identifiers
- MONDO:0017694 OMIM:232300Orphanet:308552
- Part of
- Glycogen storage disease II
- Also known as
- alpha-1,4-glucosidase acid deficiency, infantile onset · glycogen storage disease type 2, infantile onset · glycogen storage disease type II, infantile onset · glycogenosis due to acid maltase deficiency, infantile onset · glycogenosis type 2, infantile onset
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