Glycogen storage disease due to acid maltase deficiency, late-onset

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Name:
Glycogen storage disease due to acid maltase deficiency, late-onset
Description:
A form of glycogen storage disease due to acid maltase deficiency characterized by excessive accumulation of glycogen in lysosomes most notably in skeletal muscle, leading to slowly progressive muscle weakness with walking disability and reduced respiratory function. The late-onset form includes all cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year, as well as all cases with symptom onset above the age of 1 year.
ORPHAcode:
420429
Synonyms:
Alpha-1,4-glucosidase acid deficiency, late-onset
GSD due to acid maltase deficiency, late-onset
GSD type 2, late-onset
GSD type II, late-onset
Glycogen storage disease type 2, late-onset
Glycogen storage disease type II, late-onset
Glycogenosis type 2, late-onset
Glycogenosis type II, late-onset
Pompe disease, late-onset
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14